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  3. AHDC1
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Craniosynostosis

Gene: AHDC1

Green List (high evidence)
AHDC1 (AT-hook DNA binding motif containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126705
EnsemblGeneIds (GRCh37): ENSG00000126705
OMIM: 615790, Gene2Phenotype
AHDC1 is in 6 panels

1 review

Yetong Chen (University of Melbourne)

Green List (high evidence)

More than 3 unrelated individuals are reported.
PMID 27884935 scanned craniosynostosis patients and identified an AHDC1 variant (c.2373_2374delTG, p.C791fs*57) from a patient with craniosynostosis.
PMID 30858058 reports a patient with a heterozygous AHDC1 variant (c.4370 A>G, p.Asp1457Gly) who had craniosynostosis.
PMID 30152016 reports a patient (patient 1) with a heterozygous AHDC1 variant (c.2473C>T; p.Q825*) who had craniosynostosis.
PMID 27148574 reports a patient (patient 3) with an AHDC1 variant (c.1881delG
p.Q627Hfs*105) who had sagittal craniosynostosis.
PMID 33288889: Of 94 individuals with syndromic craniosynostosis, 2 individuals carried AHDC1 variants (c.3185_3186del p.(Thr1062Serfs*63) and c.2772del p.(Arg925Glufs*7), respectively).
Sources: Expert Review
Created: 11 May 2023, 5:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Xia-Gibbs syndrome, MIM# 615829

Publications

Created: 11 May 2023, 5:34 a.m.

Panel version: 1.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Xia-Gibbs syndrome, MIM# 615829
OMIM
615790
Clinvar variants
Variants in AHDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahdc1 has been classified as Green List (High Evidence).

16 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahdc1 has been classified as Green List (High Evidence).

11 May 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: AHDC1 was added gene: AHDC1 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to 27884935; 30858058; 30152016; 27148574; 33288889 Phenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM# 615829 Review for gene: AHDC1 was set to GREEN