Growth failure
Gene: CEP152EnsemblGeneIds (GRCh38): ENSG00000103995
EnsemblGeneIds (GRCh37): ENSG00000103995
OMIM: 613529, Gene2Phenotype
CEP152 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three unrelated families reported. Note bi-allelic variants in this gene also cause isolated microcephaly.
Sources: Expert ReviewCreated: 18 Aug 2021, 10:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 5, MIM# 613823
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Seckel syndrome 5, MIM# 613823
- OMIM
- 613529
- Clinvar variants
- Variants in CEP152
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep152 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep152 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CEP152 was added gene: CEP152 was added to Growth failure in early childhood. Sources: Expert Review 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, MIM# 613823 Review for gene: CEP152 was set to GREEN