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Early onset or syndromic epilepsy v2.512 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Early onset or syndromic epilepsy v1.191 HSPD1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HSPD1.
Early onset or syndromic epilepsy v1.190 HSPD1 Rebecca Foulger Source NHS GMS was added to HSPD1.
Early onset or syndromic epilepsy v1.189 HSPD1 Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy hypomyelinating 4, 612233, Spastic paraplegia 13, 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1295 HSPD1 Ivone Leong Marked gene: HSPD1 as ready
Early onset or syndromic epilepsy v0.1295 HSPD1 Ivone Leong Added comment: Comment when marking as ready: HSPD1 remains as an amber gene as there is not enough evidence to promote it to a green gene. I have added the watchlist tag.
Early onset or syndromic epilepsy v0.1295 HSPD1 Ivone Leong Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Marked gene: HSPD1 as ready
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Added comment: Comment when marking as ready: Leukodystrophy, hypomyelinating, 4 is associated with the gene on OMIM and Gene2Phenotype. However, there are only 2 reported families with variants in this gene. In one large family (PMID:18571143) 6 of 10 affected members have seizures. In another study (PMID:30083362) one patient with a variant in this gene has seizures.
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Tag watchlist tag was added to gene: HSPD1.
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Publications for gene: HSPD1 were set to
Early onset or syndromic epilepsy v0.892 HSPD1 Ivone Leong Mode of inheritance for gene: HSPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.891 HSPD1 Ivone Leong Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, 612233
Early onset or syndromic epilepsy HSPD1 Zornitza Stark reviewed gene: HSPD1
Early onset or syndromic epilepsy HSPD1 Sarah Leigh Added gene to panel