1. Panels
  2. Congenital diaphragmatic hernia
  3. MCPH1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital diaphragmatic hernia

Gene: MCPH1

Red List (low 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)

Red List (low evidence)

Single individual reported as part of a CDH cohort.
Sources: Literature
Created: 21 Jun 2021, 8:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Jun 2021, 8:29 a.m.

Panel version: 0.91

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
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

21 Jun 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).

21 Jun 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: MCPH1 was added gene: MCPH1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCPH1 were set to 33461977 Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, MIM# 251200 Review for gene: MCPH1 was set to RED