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Callosome
Gene: MCPH1

MCPH1 (microcephalin 1)
EnsemblGeneIds (GRCh38): ENSG00000147316
EnsemblGeneIds (GRCh37): ENSG00000147316
OMIM: 607117, Gene2Phenotype
MCPH1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Corpus callosum abnormalities are not prominent features of this condition -- brain size is generally small.
Created: 30 Mar 2021, 10:46 p.m. | Last Modified: 30 Mar 2021, 10:46 p.m.

Panel Version: 0.268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617

Created: 30 Mar 2021, 10:46 p.m.
Last Modified: 30 Mar 2021, 10:46 p.m.
Panel version: 0.268

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 1, primary, autosomal recessive, MIM# 251200
MONDO:0009617

OMIM

Clinvar variants

Variants in MCPH1

Penetrance

None

Panels with this gene

History Filter Activity

30 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcph1 has been classified as Red List (Low Evidence).

30 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617

30 Mar 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcph1 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: MCPH1 was added gene: MCPH1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MCPH1 was set to Unknown