×
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
Arthrogryposis
0.600
Biomarker
GENOMICS_ENGLAND
Myosin-IXA regulates collective epithelial cell migration by targeting RhoGAP activity to cell-cell junctions.
22305756 2012
×
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
Arthrogryposis
0.500
Biomarker
GENOMICS_ENGLAND
The N-terminal domains of Vps3 and Vps8 are critical for localization and function of the CORVET tethering complex on endosomes.
23840658 2013
×
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
Arthrogryposis
0.460
Biomarker
GENOMICS_ENGLAND
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
18853461 2009
×
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
Arthrogryposis
0.440
Biomarker
GENOMICS_ENGLAND
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
23413262 2013
×
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
Arthrogryposis
0.430
Biomarker
GENOMICS_ENGLAND
Missense mutations in <i>BICD2</i> cause autosomal dominant spinal muscular atrophy, lower-extremity predominant 2 (SMALED2 ), a disease characterized by muscle weakness and arthrogryposis of early onset and slow progression.
30054298 2018
×
Entrez Id: 63894
Gene Symbol: VIPAS39
VIPAS39
Arthrogryposis
0.430
Biomarker
GENOMICS_ENGLAND
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis , renal tubular dysfunction and intrahepatic cholestasis.
26808426 2016
×
Entrez Id: 63894
Gene Symbol: VIPAS39
VIPAS39
Arthrogryposis
0.430
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
Arthrogryposis
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
Arthrogryposis
0.420
Biomarker
GENOMICS_ENGLAND
Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis , FADS, or LMPS of unknown etiology.
31059209 2019
×
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
Arthrogryposis
0.420
Biomarker
GENOMICS_ENGLAND
This is consistent with previous studies reporting arthrogryposis in Lgi4 -deficient mice due to peripheral hypomyelination.
28318499 2017
×
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
Arthrogryposis
0.420
Biomarker
GENOMICS_ENGLAND
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
23850728 2013
×
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
Arthrogryposis
0.420
Biomarker
GENOMICS_ENGLAND
The claw paw mutation reveals a role for Lgi4 in peripheral nerve development.
16341215 2006
×
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
Arthrogryposis
0.420
Biomarker
GENOMICS_ENGLAND
The claw paw mutation reveals a role for Lgi4 in peripheral nerve development.
16341215 2006
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Arthrogryposis
0.400
Biomarker
GENOMICS_ENGLAND
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
30690204 2020
×
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
Arthrogryposis
0.400
Biomarker
GENOMICS_ENGLAND
Molecular autopsy in maternal-fetal medicine.
28749478 2018
×
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Arthrogryposis
0.350
Biomarker
GENOMICS_ENGLAND
Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC , recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene.
26365340 2015
×
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Arthrogryposis
0.350
Biomarker
GENOMICS_ENGLAND
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
24076603 2013
×
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Arthrogryposis
0.340
Biomarker
GENOMICS_ENGLAND
Absence or interruption of the SMN gene in the AMC -SMA association will make the diagnosis easier and genetic counselling will now become feasible.
8787675 1996
×
Entrez Id: 7273
Gene Symbol: TTN
TTN
Arthrogryposis
0.320
Biomarker
GENOMICS_ENGLAND
A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
28716623 2017
×
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Arthrogryposis
0.320
Biomarker
GENOMICS_ENGLAND
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
28554554 2017
×
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
Arthrogryposis
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis .
31504653 2019
×
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
Arthrogryposis
0.310
Biomarker
GENOMICS_ENGLAND
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
26016410 2015
×
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
Arthrogryposis
0.310
Biomarker
GENOMICS_ENGLAND
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
19142688 2009
×
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
Arthrogryposis
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
12592607 2003