White matter disorders and cerebral calcification - narrow panel
Gene: ENTPD1
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:40 a.m. | Last Modified: 11 Oct 2023, 10:40 a.m.
Panel Version: 3.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN in the next major update.Created: 16 May 2023, 11:08 a.m. | Last Modified: 16 May 2023, 11:08 a.m.
Panel Version: 3.10
PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals (from 9 families) and epilepsy in 7 individuals.
In addition, it was also reviewed here that two unrelated families were previously reported with white matter abnormalities.
Sources: LiteratureCreated: 16 May 2023, 10:31 a.m. | Last Modified: 16 May 2023, 11:07 a.m.
Panel Version: 3.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683
Publications
Tag Q2_23_promote_green was removed from gene: ENTPD1.
Source NHS GMS was added to ENTPD1. Source Expert Review Green was added to ENTPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: ENTPD1.
Gene: entpd1 has been classified as Amber List (Moderate Evidence).
gene: ENTPD1 was added gene: ENTPD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 35471564 Phenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, OMIM:615683 Review for gene: ENTPD1 was set to GREEN