1. Genes and Genomic Entities
  2. IMPAD1

IMPAD1

inositol monophosphatase domain containing 1
OMIM: 614010, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green IMPAD1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Chondrodysplasia with joint dislocations, GPAPP type 614078
    Tags
    • new-gene-name
    Green IMPAD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
    Tags
    • new-gene-name
    Red IMPAD1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Chondrodysplasia with joint dislocations, GPAPP type
    Tags
    • new-gene-name
    Green IMPAD1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078
    Tags
    • new-gene-name
    Green IMPAD1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
    Tags
    • new-gene-name
    Red IMPAD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Chondrodysplasia with joint dislocations, GRAPP type, 614078
    Tags
    • new-gene-name