Cerebellar hypoplasia

Gene: AHDC1

No list

AHDC1 (AT-hook DNA binding motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 7 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

In PMID: 31474318 found one patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 4 from the literature (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 12:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; Cerebellar hypoplasia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • intellectual disability
  • Cerebellar hypoplasia
OMIM
615790
Clinvar variants
Variants in AHDC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: AHDC1 was added gene: AHDC1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to PMID: 31474318 Phenotypes for gene: AHDC1 were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: AHDC1 were set to Complete Review for gene: AHDC1 was set to GREEN