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Early onset or syndromic epilepsy v7.39 CCDC88A Sarah Leigh Tag Q3_24_promote_green was removed from gene: CCDC88A.
Early onset or syndromic epilepsy v7.39 CCDC88A Sarah Leigh edited their review of gene: CCDC88A: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v7.38 CCDC88A Sarah Leigh Source Expert Review Green was added to CCDC88A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v7.6 CCDC88A Arina Puzriakova Publications for gene: CCDC88A were set to 26917597; 30392057
Early onset or syndromic epilepsy v7.5 CCDC88A Arina Puzriakova Phenotypes for gene: CCDC88A were changed from ?PEHO syndrome-like 617507 to PEHO syndrome-like, OMIM:617507
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Tag watchlist was removed from gene: CCDC88A.
Tag Q3_24_promote_green tag was added to gene: CCDC88A.
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Classified gene: CCDC88A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Added comment: Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Early onset or syndromic epilepsy v7.4 CCDC88A Arina Puzriakova Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.15 CCDC88A Cassandra Smith reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39334473, 37798908, 26917597; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 CCDC88A Rebecca Foulger Source Wessex and West Midlands GLH was added to CCDC88A.
Early onset or syndromic epilepsy v1.190 CCDC88A Rebecca Foulger Source NHS GMS was added to CCDC88A.
Early onset or syndromic epilepsy v1.189 CCDC88A Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CCDC88A Tracy Lester reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1273 CCDC88A Sarah Leigh Publications for gene: CCDC88A were set to 26917597
Early onset or syndromic epilepsy v0.932 CCDC88A Konstantinos Varvagiannis reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Marked gene: CCDC88A as ready
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Added comment: Comment when marking as ready: Insufficient evidence at present for gene to be green (13/11/2018)
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Tag watchlist tag was added to gene: CCDC88A.
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Phenotypes for gene: CCDC88A were changed from to ?PEHO syndrome-like 617507
Early onset or syndromic epilepsy v0.767 CCDC88A Sarah Leigh Publications for gene: CCDC88A were set to
Early onset or syndromic epilepsy v0.766 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.765 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy CCDC88A Zornitza Stark reviewed gene: CCDC88A
Early onset or syndromic epilepsy CCDC88A Sarah Leigh Added gene to panel