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Callosome
Gene: CEP135

CEP135 (centrosomal protein 135)
EnsemblGeneIds (GRCh38): ENSG00000174799
EnsemblGeneIds (GRCh37): ENSG00000174799
OMIM: 611423, Gene2Phenotype
CEP135 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

At least 3 families reported, structural brain abnormalities are not a prominent feature of this condition.
Created: 10 Dec 2021, 5:06 a.m. | Last Modified: 10 Dec 2021, 5:06 a.m.

Panel Version: 0.343

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673

Publications

Created: 10 Dec 2021, 5:06 a.m.
Last Modified: 10 Dec 2021, 5:06 a.m.
Panel version: 0.343

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Microcephalic primordial dwarfism
Microcephaly 8, primary, autosomal recessive, 614673

OMIM

Clinvar variants

Variants in CEP135

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep135 has been classified as Red List (Low Evidence).

10 Dec 2021, Gel status: 1

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

10 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CEP135 were set to

10 Dec 2021, Gel status: 1

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

10 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep135 has been classified as Red List (Low Evidence).

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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CEP135 was set to Unknown