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Intellectual disability syndromic and non-syndromic

Gene: ERCC5

Green List (high evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, spectrum of severity, with COFS having significant ID, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.
Created: 20 Apr 2021, 2:35 a.m. | Last Modified: 20 Apr 2021, 2:35 a.m.
Panel Version: 0.3690

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216

Publications

History Filter Activity

20 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ercc5 has been classified as Green List (High Evidence).

20 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216

20 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERCC5 were set to

20 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC5 was added gene: ERCC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC5 was set to Unknown