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Intellectual disability syndromic and non-syndromic

Gene: CEP85L

Green List (high evidence)

CEP85L (centrosomal protein 85 like)
EnsemblGeneIds (GRCh38): ENSG00000111860
EnsemblGeneIds (GRCh37): ENSG00000111860
CEP85L is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Expert Review
Created: 18 Jul 2021, 9:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly, posterior predominant

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lissencephaly, posterior predominant
Clinvar variants
Variants in CEP85L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep85l has been classified as Green List (High Evidence).

18 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep85l has been classified as Green List (High Evidence).

18 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP85L was added gene: CEP85L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant Review for gene: CEP85L was set to GREEN