Arthrogryposis
Gene: MYBPC1
Comment on list classification: Green review from expert, and more than 3 unrelated family reports, with functional evidence.Created: 3 May 2016, 9:51 a.m.
Comment on mode of inheritance: See publications.Created: 3 May 2016, 9:42 a.m.
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
MYBPC1 was added to Arthrogryposispanel. Source: Expert
MYBPC1 was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for MYBPC1 were set to PMID: 20045868 (two variants identified in two families with Distal arthrogryposis type I); PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity); PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development; PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome).
Publications for MYBPC1 were set to PMID: 20045868; PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity); PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development; PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome).
Mode of inheritance for MYBPC1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for MYBPC1 were set to PMID: 20045868; PMID: 26661508 (consanguineous Israeli-Druze family); PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity)
Publications for MYBPC1 were set to PMID: 20045868; 26661508
Model of inheritance for gene MYBPC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYBPC1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services
MYBPC1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen