IllnessPrenatal akinesia / hypokinesia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Prenatal akinesia / hypokinesia containing 12 core candidate genes and altogether 67 curated genes according to the clinical signs
ID
PP3647
Number of genes
37
Accredited laboratory test
Examined sequence length
24,1 kb (Core-/Core-canditate-Genes)
208,5 kb (Extended panel: incl. additional genes)
208,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- Amniotic fluid (after amnocentesis)
- Chorionic villus
- Umbilical cord blood
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ASCC1 | 1074 | NM_001198800.3 | AR | |
BICD2 | 2568 | NM_001003800.2 | AD | |
CHRNA1 | 1374 | NM_000079.4 | AD, AR | |
CHRND | 1554 | NM_000751.3 | AR | |
CHRNG | 1554 | NM_005199.5 | AR | |
CNTN1 | 3057 | NM_001843.4 | AR | |
DOK7 | 1515 | NM_173660.5 | AR | |
ERCC6 | 4482 | NM_000124.4 | AR | |
GBE1 | 2109 | NM_000158.4 | AR | |
MUSK | 2610 | NM_005592.4 | AR | |
MYOD1 | 963 | NM_002478.5 | AR | |
RAPSN | 1239 | NM_005055.5 | AR | |
CNTNAP1 | 4155 | NM_003632.3 | AR | |
ECEL1 | 2328 | NM_004826.4 | AR | |
ERCC1 | 972 | NM_202001.3 | AR | |
ERCC2 | 2283 | NM_000400.4 | AR | |
ERCC3 | 2349 | NM_000122.2 | AR | |
GLE1 | 2097 | NM_001003722.2 | AR | |
HRAS | 570 | NM_005343.4 | AD | |
IRF6 | 1404 | NM_006147.4 | AD | |
LGI4 | 1614 | NM_139284.3 | AR | |
LMNA | 1995 | NM_170707.4 | AD, AR | |
MAGEL2 | 3750 | NM_019066.5 | AD | |
MYBPC1 | 3516 | NM_002465.4 | AD, AR | |
MYH3 | 5823 | NM_002470.4 | AD | |
MYH8 | 5814 | NM_002472.3 | AD | |
NUP88 | 2291 | NM_002532.6 | AR | |
PIEZO2 | 8259 | NM_022068.4 | AD, AR | |
RIPK4 | 2355 | NM_020639.3 | AR | |
SMN1 | 885 | NM_000344.4 | AR | |
SYNE1 | 26250 | NM_033071.4 | AR | |
TNNI2 | 549 | NM_003282.4 | AD | |
TPM2 | 855 | NM_003289.4 | AD | |
TTN | 100272 | NM_001267550.2 | AR, AD | |
VIPAS39 | 1482 | NM_022067.4 | AR | |
VPS33B | 1854 | NM_018668.5 | AR | |
ZC4H2 | 675 | NM_018684.4 | XL |
Informations about the disease
Clinical Comment
Multiple joint contractures, facial anomalies, pulmonary hypoplasia. Common feature is decreased foetal activity
Synonyms
- Alias: Fetal akinesia deformation sequence
- Alias: Prenatal akiesia/hypokinesia
- Allelic: Barrett esophagus/esophageal adenocarcinoma (ASCC1)
- Allelic: CAP myopathy 2 (TPM2)
- Allelic: CHAND syndrome (RIPK4)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cockayne syndrome, type B (ERCC6)
- Allelic: Costello syndrome (HRAS)
- Allelic: De Sanctis-Cacchione syndrome (ERCC6)
- Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
- Allelic: Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
- Allelic: Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Intellectual developmental disorder, AD 56 (CLTC)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Malignant hyperthermia susceptibility 5 (CACNA1S)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Nemaline myopathy 4, AD (TPM2)
- Allelic: Orofacial cleft 6 (IRF6)
- Allelic: Polyglucosan body disease, adult form (GBE1)
- Allelic: Premature ovarian failure 11 (ERCC6)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Allelic: Thyrotoxic periodic paralysis, susceptibility to, 1 (CACNA1S)
- Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- Allelic: Xeroderma pigmentosum, group D (ERCC2)
- Allelic: van der Woude syndrome (IRF6)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Arthrogryposis [MONDO:0008779; panelapp] (KIF21A)
- Arthrogryposis [panelapp] (UTRN)
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
- Arthrogryposis multiplex congenita 2, neurogenic type (ERGIC1)
- Arthrogryposis multiplex congenita 6 (NEB)
- Arthrogryposis multiplex congenita [panelapp] (UNC50)
- Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
- Arthrogryposis, distal, type 1A (TPM2)
- Arthrogryposis, distal, type 1B (MYBPC1)
- Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
- Arthrogryposis, distal, type 2B1 (TNNI2)
- Arthrogryposis, distal, type 2B2 (TNNT3)
- Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
- Arthrogryposis, distal, type 2B4 (TPM2)
- Arthrogryposis, distal, type 3 (PIEZO2)
- Arthrogryposis, distal, type 5 (PIEZO2)
- Arthrogryposis, distal, type 5D (ECEL1)
- Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
- Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS33B)
- Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
- Cardiomyopathy, dilated, 1A (LMNA)
- Carney complex variant (MYH8)
- Central core disease (RYR1)
- Centronuclear myopathy 1 (DNM2)
- Centronuclear myopathy 2 (BIN1)
- Cerebro-oculo-facio-skeletal (COFS) syndrome (ERCC6)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebrooculofacioskeletal syndrome 2 (ERCC2)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Charcot-Marie-Tooth disease, DI B (DNM2)
- Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Congenital arthrogryposis with anterior horn cell disease (GLE1)
- Congenital disorder of glycosylation, type Ij (DPAGT1)
- Congenital myopathy with excess of muscle spindles (HRAS)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A (MYH3)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Escobar syndrome (CHRNG)
- Fetal akinesia [panelapp] (KIF21A)
- Fetal akinesia deformation sequence 1 (MUSK)
- Fetal akinesia deformation sequence 2 (RAPSN)
- Fetal akinesia deformation sequence 3 (DOK7)
- Fetal akinesia, growth restriction [panelapp] (CLTC)
- Glycogen storage disease IV (GBE1)
- Hyperkalemic periodic paralysis, type 2 (SCN4A)
- Hypokalemic periodic paralysis, type 1 (CACNA1S)
- Hypokalemic periodic paralysis, type 2 (SCN4A)
- Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- King-Denborough syndrome (RYR1)
- Lethal congenital contracture syndrome 1 (GLE1)
- Lethal congenital contracture syndrome 2 (ERBB3)
- Lethal congenital contracture syndrome 3 (PIP5K1C)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Lethal congenital contracture syndrome 5 (DNM2)
- Lethal congenital contracture syndrome 6 (ZBTB42)
- Lethal congenital contracture syndrome 7 (CNTNAP1)
- Lethal congenital contracture syndrome 8 (ADCY6)
- Lethal congenital contracture syndrome 9 (ADGRG6)
- Marden-Walker syndrome (PIEZO2)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
- Multiple pterygium syndrome, lethal type (CHRNG)
- Muscular dystrophy, congenital (LMNA)
- Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
- Muscular dystrophy, limb-girdle, AR (TTN)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
- Myasthenic syndrome, congenital, 10 (DOK7)
- Myasthenic syndrome, congenital, 11, ass. w. acetylcholine receptor deficiency (RAPSN)
- Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
- Myasthenic syndrome, congenital, 16 (SCN4A)
- Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
- Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
- Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
- Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
- Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
- Myasthenic syndrome, congenital, 3C, ass. w. acetylcholine receptor deficiency (CHRND)
- Myasthenic syndrome, congenital, 9, ass. w. acetylcholine receptor deficiency (MUSK)
- Myopathy, XL, with excessive autophagy (VMA21)
- Myopathy, actin, congenital, with cores (ACTA1)
- Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Myopathy, centronuclear, XL (MTM1)
- Myopathy, cong., diaphragmatic defects, respiratory insufficiency, dysmorphic face (MYOD1)
- Myopathy, congenital, Compton-North (CNTN1)
- Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Myopathy, congenital, with tremor (MYBPC1)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, scapulohumeroperoneal (ACTA1)
- Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
- Myotonic dystrophy 1 (DMPK_CTG)
- Nemaline myopathy 10 (LMOD3)
- Nemaline myopathy 2, AR (NEB)
- Nemaline myopathy 3, AD/AR (ACTA1)
- Nemaline myopathy 8, AR (KLHL40)
- Nemaline myopathy 9 (KLHL41)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Paramyotonia congenita (SCN4A)
- Pena Shokeir I/II syndromes
- Popliteal pterygium syndrome 1 (IRF6)
- Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
- Restrictive dermopathy 2 (LMNA)
- Salih myopathy (TTN)
- Schaaf-Yang syndrome (MAGEL2)
- Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
- Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
- Tibial muscular dystrophy, tardive (TTN)
- Trismus-pseudocamptodactyly syndrome (MYH8)
- Visceral neuropathy, familial, 1, AR (ERBB3)
- Wieacker-Wolff syndrome (ZC4H2)
- Wieacker-Wolff syndrome, female-restricted (ZC4H2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined