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  3. IMPAD1
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Skeletal Dysplasia_Fetal

Gene: IMPAD1

Green List (high evidence)
IMPAD1 (inositol monophosphatase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000104331
EnsemblGeneIds (GRCh37): ENSG00000104331
OMIM: 614010, Gene2Phenotype
IMPAD1 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Disproportionately shortened length prenatally with shortened limbs described.
Sources: Expert list, Literature
Created: 11 Oct 2022, 5:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078

Publications

Created: 11 Oct 2022, 5:36 a.m.

Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078
OMIM
614010
Clinvar variants
Variants in IMPAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impad1 has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impad1 has been classified as Green List (High Evidence).

11 Oct 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: IMPAD1 was added gene: IMPAD1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IMPAD1 were set to 34989141 Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078 Review for gene: IMPAD1 was set to GREEN