ANKH

ANKH inorganic pyrophosphate transport regulator
OMIM: 605145
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHONDROCALCINOSIS 2 118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHONDROCALCINOSIS 2, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ)
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chondrocalcinosis 2 118600, Craniometaphyseal dysplasia 123000