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Intellectual disability syndromic and non-syndromic

Gene: MCPH1

Green List (high evidence)

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, 10:43 p.m. | Last Modified: 30 Mar 2021, 10:43 p.m.
Panel Version: 0.3569

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 1, primary, autosomal recessive, MIM# 251200
  • MONDO:0009617
OMIM
607117
Clinvar variants
Variants in MCPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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; MONDO:0009617

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCPH1 was set to Unknown