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Arthrogryposis

Gene: ERCC5

Green List (high evidence)
ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval
Created: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
Created: 3 Mar 2022, 3:49 p.m.
Last Modified: 3 Mar 2022, 3:49 p.m.
Panel version: 3.150

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

Created: 28 Jan 2021, 12:12 p.m.
Last Modified: 28 Jan 2021, 12:12 p.m.
Panel version: 3.52

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

Created: 11 Jul 2020, 6:22 a.m.
Last Modified: 11 Jul 2020, 6:37 a.m.
Panel version: 3.11

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
Created: 26 Nov 2019, 3:16 p.m.
Last Modified: 26 Nov 2019, 3:16 p.m.
Panel version: 2.64

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: ERCC5.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ERCC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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