Activity
21 Apr 2021
Clefting v2.28
ACBD5
Arina Puzriakova Classified gene: ACBD5 as Red List (low evidence)
21 Apr 2021
Clefting v2.28
ACBD5
Arina Puzriakova Added comment: Comment on list classification: Only a single patient reported with a cleft palate to date, and therefore rating Red on this panel.
21 Apr 2021
Clefting v2.28
ACBD5
Arina Puzriakova Gene: acbd5 has been classified as Red List (Low Evidence).
21 Apr 2021
Clefting v2.27
ACBD5
Arina Puzriakova Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, OMIM:618863
21 Apr 2021
Clefting v2.26
ACBD5
Arina Puzriakova Publications for gene: ACBD5 were set to
21 Apr 2021
Clefting v2.25
ACBD5
Arina Puzriakova Mode of inheritance for gene: ACBD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Feb 2021
Clefting v2.24
ACBD5
Zornitza Stark reviewed gene: ACBD5: Rating: RED; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Aug 2018
Clefting
ACBD5
Ellen McDonagh Added gene to panel