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

Tags

gene-checked

OMIM

600481

Clinvar variants

Variants in SREBF2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: SREBF2.

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