1. Genes and Genomic Entities
  2. ANKH

ANKH

ANKH inorganic pyrophosphate transport regulator
OMIM: 605145, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green ANKH in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.8
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Chondrocalcinosis 2 118600
    • Craniometaphyseal dysplasia 123000
    Green ANKH in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.7
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHONDROCALCINOSIS 2
    • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
    Amber ANKH in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Craniometaphyseal dysplasia, OMIM:123000
    • craniosynostosis, MONDO:0015469
    Red ANKH in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Disproportionate Short Stature
    Green ANKH in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHONDROCALCINOSIS 2 118600
    • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
    Red ANKH in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600
    • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ)
    Green ANKH in Osteopetrosis


    Level 2: Musculoskeletal
    Version 2.3
    Latest signed off version: v2.2 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Chondrocalcinosis 2 OMIM:118600
    • Craniometaphyseal dysplasia OMIM:123000