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Severe microcephaly

Gene: CHAMP1

No list

CHAMP1 (chromosome alignment maintaining phosphoprotein 1)
EnsemblGeneIds (GRCh38): ENSG00000198824
EnsemblGeneIds (GRCh37): ENSG00000198824
OMIM: 616327, Gene2Phenotype
CHAMP1 is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Sources: Expert list
Created: 4 Sep 2020, 10:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Mental retardation, autosomal dominant 40 (MIM#616579)
OMIM
616327
Clinvar variants
Variants in CHAMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CHAMP1 was added gene: CHAMP1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAMP1 were set to 27148580; 26340335 Phenotypes for gene: CHAMP1 were set to Mental retardation, autosomal dominant 40 (MIM#616579) Review for gene: CHAMP1 was set to GREEN gene: CHAMP1 was marked as current diagnostic