Genes in panel

Hereditary ataxia - adult onset

Gene: ERCC4

Green List (high evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 25 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least nine variants reported in at least seven cases of Xeroderma pigmentosum, group F OMIM:278760, where neurodegeneration and ataxia was present (PMID 29403087; 28431612; 29892709).
Created: 20 May 2021, 11:40 a.m. | Last Modified: 20 May 2021, 11:40 a.m.
Panel Version: 2.57
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 20 May 2021, 11:31 a.m. | Last Modified: 20 May 2021, 11:31 a.m.
Panel Version: 2.56

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Bi-allelic variants in ERCC4 cause a range of phenotypes, including xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anaemia. Seven unrelated individuals reported with slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with onset in adolescence/adulthood. Brain MRIs demonstrated atrophy that included the cerebellum and brainstem. Of note, cutaneous symptoms were very mild in 5/7: there was normal to very mild pigmentation of exposed skin areas and/or an equivocal history of pathological sunburn.
Sources: Expert list
Created: 13 Sep 2020, 11:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ERCC4.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to ERCC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ERCC4.

20 May 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ERCC4 were changed from Cerebellar ataxia; Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215 to Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215

20 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ercc4 has been classified as Amber List (Moderate Evidence).

20 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ERCC4 were changed from Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760 to Cerebellar ataxia; Xeroderma pigmentosum, group F OMIM:278760; xeroderma pigmentosum group F MONDO:0010215

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ERCC4 was added gene: ERCC4 was added to Hereditary ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 29403087; 28431612; 29892709 Phenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760 Review for gene: ERCC4 was set to GREEN gene: ERCC4 was marked as current diagnostic