Microcephaly
Gene: CEP135
CEP135 (centrosomal protein 135)
EnsemblGeneIds (GRCh38): ENSG00000174799
EnsemblGeneIds (GRCh37): ENSG00000174799
OMIM: 611423, Gene2Phenotype
CEP135 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000174799
EnsemblGeneIds (GRCh37): ENSG00000174799
OMIM: 611423, Gene2Phenotype
CEP135 is in 5 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Microcephalic primordial dwarfism
- Microcephaly 8, primary, autosomal recessive, 614673
- OMIM
- 611423
- Clinvar variants
- Variants in CEP135
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Feb 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cep135 has been classified as Green List (High Evidence).
28 Feb 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
28 Feb 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CEP135 were set to
28 Feb 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CEP135 was added gene: CEP135 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP135 was set to Unknown