1. Genes and Genomic Entities
  2. IMPAD1

IMPAD1

inositol monophosphatase domain containing 1
OMIM: 614010, Gene2Phenotype

7 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    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
    Green IMPAD1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chondrodysplasia with joint dislocations, GPAPP type, 614078