White matter disorders and cerebral calcification - narrow panel
Gene: ERCC5
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Leaving rating as green but with a recommendation for amber or red rating following GMS review. As Expert reviewer reports there is no specific white matter abnormalities/leukodystrphy reported in the cases to date.Created: 11 May 2021, 3:45 p.m. | Last Modified: 11 May 2021, 3:45 p.m.
Panel Version: 1.88
Associated with Cerebrooculofacioskeletal syndrome 3 #616570 and Xeroderma pigmentosum, group G/Cockayne syndrome #278780 in OMIM.
ERCC5 is also known as XPG.
No predominant white matter disorder phenotype reported.
PubMed: 8818951 - Hamel et al. (1996)//9096355 - Nouspikel et al. (1997) - report a Moroccan boy with Cerebrooculofacioskeletal syndrome 3 and a biallelic variant in ERCC5. Cerebral MRI showed dysmyelination.
PubMed: 24700531 - Drury et al 2014 - report on five fetuses conceived to 3 sets of related first cousin parents presenting with abnormal ultrasound findings including contractures and microcephaly. The phenotype is consistent with Cerebrooculofacioskeletal syndrome 3. A biallelic variant in ERCC5 was found in the proband, and is heterozygous in each of the parents. MRI was carried out on one fetus and found no major abnormalities.
PMID: 11228268 - Zafeiriou et al 2002 - report an infant (XPCS4RO) with the very rare xeroderma pigmentosum group G (XP-G) with severe neurological involvement and features of Cockayne syndrome in which compound heterozygous variants (nonsense and missense) were found in ERCC5. Both computed tomography and brain magnetic resonance imaging demonstrated brain atrophy.
PMID: 8317483- Vermeulen et al. (1993) - 2 unrelated, severely affected patients (XPCS1LV and XPCS2LV) with the clinical characteristics of Cockayne sydrome in which ERCC5 variants were found by Nouspikel et al. (1997). In one nerve conduction velocity was normal, in the other nerve conduction velocity was decreased, and visual and auditory-evoked potentials were absent.Created: 11 May 2021, 3:42 p.m. | Last Modified: 11 May 2021, 3:42 p.m.
Panel Version: 1.85
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3 OMIM:616570; Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780
Publications
Cannot find specific reports of leukodystrphy/white matter changes associated with variants in this gene.Created: 15 Sep 2020, 10:24 a.m. | Last Modified: 15 Sep 2020, 10:24 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 3 616570; Xeroderma pigmentosum, group G 278780
Tag Q2_21_rating was removed from gene: ERCC5.
Source Expert Review Amber was added to ERCC5. Source NHS GMS was added to ERCC5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_rating tag was added to gene: ERCC5.
Gene: ercc5 has been classified as Green List (High Evidence).
Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 to Cerebrooculofacioskeletal syndrome 3 OMIM:616570; Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780
Publications for gene: ERCC5 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: ERCC5 was added gene: ERCC5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780