1. Panels
  2. Prepair 1000+
  3. MCPH1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect.

Well-established gene-disease association. Congenital onset.
Created: 30 Jan 2025, 8:47 p.m. | Last Modified: 30 Jan 2025, 8:47 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Jan 2025, 8:47 p.m.
Last Modified: 30 Jan 2025, 8:47 p.m.
Panel version: 1.1367

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 1, primary, autosomal recessive, MIM#251200
OMIM
607117
Clinvar variants
Variants in MCPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, 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 Jan 2025, 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, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCPH1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3) for gene: MCPH1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCPH1 was added gene: MCPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)