PanelApp (stage)
  1. Genes and Genomic Entities
  2. IMPAD1

IMPAD1

inositol monophosphatase domain containing 1
OMIM: 614010, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green IMPAD1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078

Green IMPAD1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type MIM#614078

Green IMPAD1 in Skeletal dysplasia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type 614078

Green IMPAD1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)

Green IMPAD1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type MIM#614078