Cerebral vascular malformations
Gene: CENPJ
CENPJ typically associated with seckel syndrome type 4 which hasn't been associated with any cerebral vascular findings.
PMID: 20522431 - Consanguineous family reported with seckel syndrome however no evidence of cerebral vascular malformation was identified on any brain imaging.Created: 25 Nov 2024, 1:27 a.m. | Last Modified: 25 Nov 2024, 1:27 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome MONDO:0019342
Publications
PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?Created: 2 Feb 2022, 9:20 p.m. | Last Modified: 2 Feb 2022, 9:20 p.m.
Panel Version: 0.10888
Multiple families reported with primary microcephaly, head circumference -7 to -17 S.D. Single family reported with the more severe Seckel syndrome. Mouse model.Created: 13 Nov 2021, 12:52 a.m. | Last Modified: 13 Nov 2021, 12:52 a.m.
Panel Version: 0.9710
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Publications
gene: CENPJ was added gene: CENPJ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to Seckel syndrome 4 613676