Genomics England
GMS Panels
Panels
Genes and Entities

ANKH

ANKH inorganic pyrophosphate transport regulator
OMIM: 605145
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHONDROCALCINOSIS 2 118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHONDROCALCINOSIS 2, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chondrocalcinosis 2 118600, Craniometaphyseal dysplasia 123000
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chondrocalcinosis 2 118600, Craniometaphyseal dysplasia 123000