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  3. ANKH
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Osteopetrosis

Gene: ANKH

Green List (high evidence)
ANKH (ANKH inorganic pyrophosphate transport regulator)
EnsemblGeneIds (GRCh38): ENSG00000154122
EnsemblGeneIds (GRCh37): ENSG00000154122
OMIM: 605145, Gene2Phenotype
ANKH is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

This condition is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.

PMID: 20358596 - three unrelated individuals presenting with skull hyperostosis and rare missense variants in ANKH.
Created: 29 Nov 2024, 1:05 a.m. | Last Modified: 29 Nov 2024, 1:05 a.m.
Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
craniometaphyseal dysplasia MONDO:0015465

Publications

Created: 29 Nov 2024, 1:05 a.m.
Last Modified: 29 Nov 2024, 1:05 a.m.
Panel version: 0.34

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANKH was added gene: ANKH was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANKH was set to Unknown