Arthrogryposis
Gene: ERCC5The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient unrelated families (4) with multiple fetuses affected by COFS3, including arthrogryposis.Created: 28 Jan 2021, 12:15 p.m. | Last Modified: 28 Jan 2021, 12:15 p.m.
Panel Version: 3.53
ERCC5 is associated with a relevant phenotype in OMIM.
At least 9 fetuses from 4 unrelated families with cerebrooculofacioskeletal syndrome due to biallelic variants in this gene. Prenatal onset of arthrogryposis is reported in all affected cases.
- PMID: 24700531 (2014) - 4 fetuses from a large consanguineous Pakistani kindred with COFS3 and a homozygous truncating variant in the ERCC5 gene. All were said to have microcephaly and arthrogryposis on fetal ultrasound.
- PMID: 32052936 (2020) - 3 fetuses from 2 families with homozygous LoF variants. All displayed arthrogryposis signs such as hypomotility (3), camptodactyly (3), adducted thumbs (3), rocker bottom feet (3), fixed flexion (2), clenched fists (2).
- PMID: 32557569 (2020) - 2 fetuses in single family with two compound het variants in ERCC5. Phenotypes include arthrogryposis.Created: 28 Jan 2021, 12:12 p.m. | Last Modified: 28 Jan 2021, 12:12 p.m.
Panel Version: 3.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3, OMIM:616570
Publications
A family reported with 5 affected fetuses and severe COFS including arthrogryposis in PMID:24700531. Further two included in a recent review of severe neonatal presentations of nucleotide excision-repair disorders (PMID:32557569).Created: 11 Jul 2020, 6:22 a.m. | Last Modified: 11 Jul 2020, 6:37 a.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3, MIM# 616570
Publications
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Tag for-review was removed from gene: ERCC5.
Source Expert Review Green was added to ERCC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, 616570 to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Publications for gene: ERCC5 were set to 9096355; 24700531
Gene: ercc5 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ERCC5.
Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3 to Cerebrooculofacioskeletal syndrome 3, 616570
gene: ERCC5 was added gene: ERCC5 was added to Arthrogryposis. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 9096355; 24700531 Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3