ANKH

ANKH inorganic pyrophosphate transport regulator
OMIM: 605145, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ANKH in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ANKH in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrocalcinosis 2 MIM#118600
  • Craniometaphyseal dysplasia MIM#123000

Green ANKH in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red ANKH in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Craniometaphyseal dysplasia, MIM#123000

Green ANKH in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review 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

Green ANKH in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Craniometaphyseal dysplasia

Green ANKH in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Craniometaphyseal dysplasia, MIM#123000

Red ANKH in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Craniometaphyseal dysplasia MIM#123000