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Fetal anomalies

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 22887726;
- only 2 genes were sequenced
- 2x unrelated probands with PTC variants (diagnosed with Catel–Manzke like syndrome)
- short birth length (1/2), cleft palate, spine anomalies, hand anomalies and foot anomalies reported

PMID:21549340;
- 4 unrelated probands. 3x missense + 1x PTC
- short birth length, cleft palate, spine anomalies, hand anomalies and foot anomalies reported

No additional reports since
Created: 15 Nov 2021, 3:35 a.m. | Last Modified: 15 Nov 2021, 3:35 a.m.
Panel Version: 0.448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia with joint dislocations, GPAPP type MIM#614078

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

15 Nov 2021, 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).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IMPAD1 were changed from CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IMPAD1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IMPAD1 was added gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE