Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Marked gene: ENTPD1 as ready
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Classified gene: ENTPD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4707 ENTPD1 Zornitza Stark Gene: entpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4706 ENTPD1 Zornitza Stark gene: ENTPD1 was added
gene: ENTPD1 was added to Intellectual disability syndromic and non-syndromic. 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, MIM# 615683
Review for gene: ENTPD1 was set to GREEN
Added comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.
Sources: Literature