Cerebral vascular malformations
Gene: CEP152
There is linkage between Seckel Syndrome and MoyaMoya however no reported cases with pathogenic variants in CEP152.Created: 19 Nov 2024, midnight | Last Modified: 19 Nov 2024, midnight
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome MONDO:0019342
Publications
Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.Created: 27 Mar 2021, 11:21 p.m. | Last Modified: 27 Mar 2021, 11:21 p.m.
Panel Version: 0.6931
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Publications
Gene: cep152 has been classified as Red List (Low Evidence).
Gene: cep152 has been classified as Red List (Low Evidence).
gene: CEP152 was added gene: CEP152 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP152 were set to 21131973 Phenotypes for gene: CEP152 were set to Seckel syndrome 5 613823