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Microcephaly
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)

Green List (high evidence)

More than 15 unrelated families, functional data.
Created: 30 Mar 2021, 10:45 a.m. | Last Modified: 30 Mar 2021, 10:45 a.m.

Panel Version: 0.569

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 1, primary, autosomal recessive, MIM# 251200

Publications

Created: 30 Mar 2021, 10:45 a.m.
Last Modified: 30 Mar 2021, 10:45 a.m.
Panel version: 0.569

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in MCPH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcph1 has been classified as Green List (High Evidence).

30 Mar 2021, Gel status: 3

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

30 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCPH1 were set to

30 Mar 2021, Gel status: 3

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

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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MCPH1 was set to Unknown