Clefting
Gene: IMPAD1
IMPAD1 (inositol monophosphatase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000104331
EnsemblGeneIds (GRCh37): ENSG00000104331
OMIM: 614010, Gene2Phenotype
IMPAD1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000104331
EnsemblGeneIds (GRCh37): ENSG00000104331
OMIM: 614010, Gene2Phenotype
IMPAD1 is in 6 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for IMPAD1 is BPNT2Created: 10 May 2022, 3:11 p.m. | Last Modified: 10 May 2022, 3:11 p.m.
Panel Version: 2.67
Rebecca Foulger (Genomics England curator)
Confirmed DD-G2P gene for MIM 614078, which features cleft palate. More than 3 unrelated cases of IMPAD1 variants causing MIM 614078 from multiple populations, and multiple reports of cleft palate as feature.Created: 31 May 2017, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
- Tags
- OMIM
- 614010
- Clinvar variants
- Variants in IMPAD1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 May 2022, Gel status: 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: IMPAD1.
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)IMPAD1 was created by ellenmcdonagh
31 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)IMPAD1 was added to Cleftingpanel. Sources: Expert Review Green