DDG2P
Gene: SREBF2

SREBF2 (sterol regulatory element binding transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000198911
EnsemblGeneIds (GRCh37): ENSG00000198911
OMIM: 600481, Gene2Phenotype
SREBF2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SREBF2-related complex dermatological, neurological, and skeletal abnormalities are moderate, monoallelic_autosomal and dominant negative (PMIDs: 26350204, 38847193). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03705.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SREBF2-related complex dermatological, neurological, and skeletal abnormalities

Publications

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

SREBF2-related complex dermatological, neurological, and skeletal abnormalities

OMIM

600481

Clinvar variants

Variants in SREBF2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SREBF2 was added gene: SREBF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SREBF2 were set to 26350204; 38847193 Phenotypes for gene: SREBF2 were set to SREBF2-related complex dermatological, neurological, and skeletal abnormalities Mode of pathogenicity for gene: SREBF2 was set to Other

DDG2P Gene: SREBF2