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  3. ANKH
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Skeletal dysplasia

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association

Only missense variants reported thus far (ClinVar)

PMID: 32366894 - cells transfected with reported disease causing variants (2x missense, 2x inframe deletion) resulted in protein mislocalization (LOF), and increased extracellular inorganic pyrophosphate and mineralization (GOF)

Trend of variants causing CPPDD to be found at the 5' and 3' ends of the protein, with CMD-causing variants located in the middle
Created: 4 Apr 2022, 6:40 a.m. | Last Modified: 4 Apr 2022, 6:40 a.m.
Panel Version: 0.12546

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

Phenotypes
Chondrocalcinosis 2 MIM#118600; Craniometaphyseal dysplasia MIM#123000

Publications

Created: 4 Apr 2022, 6:40 a.m.
Last Modified: 4 Apr 2022, 6:40 a.m.
Panel version: Imported from Mendeliome panel version 0.12546

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANKH was added gene: ANKH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKH were set to Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000