Cerebellar hypoplasia
Gene: AHDC1
AHDC1 (AT-hook DNA binding motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 5 panels
1 review
Dmitrijs Rots (Children's Clinical University Hospital)
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: LiteratureCreated: 26 Jul 2021, 12:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; Cerebellar hypoplasia
Publications
- PMID: 31474318
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
-
- PMID: 31474318
- 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 (Children's Clinical University Hospital)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