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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 7 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chondrocalcinosis 2 OMIM:118600
  • Craniometaphyseal dysplasia OMIM:123000
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ANKH were changed from Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 to Chondrocalcinosis 2 OMIM:118600; Craniometaphyseal dysplasia OMIM:123000

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: ANKH was added gene: ANKH was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000