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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE and Confirmed for CHONDROCALCINOSIS 2.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE, and All missense/in frame for CHONDROCALCINOSIS 2.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • CHONDROCALCINOSIS 2
  • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
OMIM
605145
Clinvar variants
Variants in ANKH
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CHONDROCALCINOSIS 2 for gene: ANKH

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ANKH was added gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE