White matter disorders and cerebral calcification - narrow panel

Gene: ENTPD1

Green List (high evidence)

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

Green List (high evidence)

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: Literature

Created: 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

• 35471564