Craniosynostosis

Gene: AHDC1

Red List (low evidence)

AHDC1 (AT-hook DNA binding motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 5 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Mental retardation, failure to thrive, hypotonia, and delayed psychomotor development with absent or poor expressive language, mild dysmorphic features - 2 cases with CSS; Miller JMedGenet 17 and Ritter AmJMedGenet 18 ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

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

Phenotypes
Xia-Gibbs syndrome - 615829

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: AHDC1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Xia-Gibbs syndrome 615829
OMIM
615790
Clinvar variants
Variants in AHDC1
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Xia-Gibbs syndrome 615829 for gene: AHDC1

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: AHDC1 was added gene: AHDC1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: AHDC1 was set to