Fetal anomalies
Gene: DDHD2

DDHD2 (DDHD domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000085788
EnsemblGeneIds (GRCh37): ENSG00000085788
OMIM: 615003, Gene2Phenotype
DDHD2 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate DDHD2 as Red.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.

Panel Version: 0.311

DDG2P rating in original PAGE list: Confirmed for COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.311

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

COMPLEX HEREDITARY SPASTIC PARAPLEGIA

OMIM

615003

Clinvar variants

Variants in DDHD2

Penetrance

None

Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to DDHD2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DDHD2 was added gene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA

Fetal anomalies Gene: DDHD2