Arthrogryposis
Gene: ASCC1Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.Created: 2 Apr 2019, 9:29 a.m.
Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: LiteratureCreated: 21 Mar 2019, 11:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ascc1 has been classified as Green List (High Evidence).
Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures to Spinal muscular atrophy with congenital bone fractures 2, 616867; Spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
gene: ASCC1 was added gene: ASCC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478 Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures Review for gene: ASCC1 was set to GREEN gene: ASCC1 was marked as current diagnostic