Fetal anomalies
Gene: CHAMP1

CHAMP1 (chromosome alignment maintaining phosphoprotein 1)
EnsemblGeneIds (GRCh38): ENSG00000198824
EnsemblGeneIds (GRCh37): ENSG00000198824
OMIM: 616327, Gene2Phenotype
CHAMP1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 10 unrelated individuals reported, microcephaly present in 7.
Created: 15 Nov 2021, 12:45 a.m. | Last Modified: 15 Nov 2021, 12:45 a.m.

Panel Version: 0.437

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 40 (MIM#616579)

Publications

Created: 15 Nov 2021, 12:45 a.m.
Last Modified: 15 Nov 2021, 12:45 a.m.
Panel version: 0.437

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 27148580;
- 10 patients including 5 from Hempel et al (PMID: 26340335)
- 7 with microcephaly defined as <3rd centile
- all PTVs and de novo

PMID: 26340335;
- 5 unrelated patients OFC at birth ranges from -0.4 to -3.1 SD
Created: 2 Sep 2020, 4:09 a.m. | Last Modified: 2 Sep 2020, 4:09 a.m.

Panel Version: 0.273

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 40 (MIM#616579)

Publications

Created: 2 Sep 2020, 4:09 a.m.
Last Modified: 2 Sep 2020, 4:09 a.m.
Panel version: Imported from Microcephaly panel version 0.273

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Mental retardation, autosomal dominant 40 (MIM#616579)
microcephaly

OMIM

616327

Clinvar variants

Variants in CHAMP1

Penetrance

None

Publications

Panels with this gene