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Arthrogryposis

Gene: ERCC5

Amber List (moderate evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 14 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

I don't know

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

History Filter Activity

28 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, 616570 to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696

28 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ERCC5 were set to 9096355; 24700531

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ercc5 has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ERCC5.

26 Nov 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3 to Cerebrooculofacioskeletal syndrome 3, 616570

26 Nov 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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