1. Panels
  2. Hand and foot malformations
  3. DPF2
STRs in panel
Prev Next
Regions in panel
Prev Next

Hand and foot malformations

Gene: DPF2

Green List (high evidence)
DPF2 (double PHD fingers 2)
EnsemblGeneIds (GRCh38): ENSG00000133884
EnsemblGeneIds (GRCh37): ENSG00000133884
OMIM: 601671, Gene2Phenotype
DPF2 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 cases reported with brachydactyly or clinodactyly.
Created: 22 Sep 2021, 3:54 a.m. | Last Modified: 22 Sep 2021, 3:54 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 7 MIM#618027

Publications

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

Created: 22 Sep 2021, 3:54 a.m.
Last Modified: 22 Sep 2021, 3:54 a.m.
Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coffin-Siris syndrome 7 MIM#618027
OMIM
601671
Clinvar variants
Variants in DPF2
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpf2 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpf2 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DPF2 was added gene: DPF2 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DPF2 were set to Coffin-Siris syndrome 7 MIM#618027