White matter disorders and cerebral calcification - narrow panel
Gene: ERCC2
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 of an amber rating following GMS review. Only one case reported with a white matter abnormality.Created: 6 May 2021, 5:31 p.m. | Last Modified: 6 May 2021, 5:31 p.m.
Panel Version: 1.72
ERCC2 is also called XPD in some publications.
PMID: 29451896 - Ji et al 2018 - 1 patient recruited in a study of patients with development delay and hypomyelination in brain MRI was found to have compound het variants in ERCC2 and a diagnosis of Trichothiodystrophy and a phenotype of ichthyosis at birth, followed by developmental delay. Developmental regression appeared at eight years of age and quadriplegia presented two years after that. Brittle hair and microcephaly was also noted.
Studies reporting more cases of Trichothiodystrophy and variants in ERCC2:
PMID: 9758621 (11 cases abstract only)
PMID: 8571952 (3 cases) - no white matter abnormalities reported
PMID: 11709541 (2 cases of XPD/Trichothiodystrophy) - no white matter abnormalities reported (CAT scan in 1 patient)
PMID: 11443545 (1 case) - a child with COFS syndrome and a variant in XPD. Complex syndromic phenotype with profound growth/developmentally delay and a neurodegenerative phenotype. White matter abnormalities not specifically mentioned.
PMID: 33733458 (1 case) - child with compound het variants in ERCC2 and severe postnatal growth deficiency, microcephaly, facial dysmorphisms and pilocytic astrocytoma of the brainstem. No white matter abnormalities noted.Created: 6 May 2021, 5:28 p.m. | Last Modified: 6 May 2021, 5:28 p.m.
Panel Version: 1.69
Single report only of leukodystrophy associated with ERCC2 variants.Created: 15 Sep 2020, 10:17 a.m. | Last Modified: 15 Sep 2020, 10:17 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 1, photosensitive 601675
Publications
Tag Q2_21_rating was removed from gene: ERCC2.
Source Expert Review Amber was added to ERCC2. Source NHS GMS was added to ERCC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Gene: ercc2 has been classified as Green List (High Evidence).
Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 to Trichothiodystrophy 1, photosensitive, OMIM:601675
Publications for gene: ERCC2 were set to MIM#601675
Tag Q2_21_rating tag was added to gene: ERCC2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1
Publications for gene ERCC2 were changed from to MIM#601675
gene: ERCC2 was added gene: ERCC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675