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  3. SREBF2
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Ichthyosis

Gene: SREBF2

Amber List (moderate evidence)
SREBF2 (sterol regulatory element binding transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000198911
EnsemblGeneIds (GRCh37): ENSG00000198911
OMIM: 600481, Gene2Phenotype
SREBF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals with de novo missense variants, presenting with neurological, cutaneous and skeletal features; supportive functional data.
Sources: Literature
Created: 4 Jul 2024, 2:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurocutaneous syndrome, MONDO:0042983, SREBF2-related

Publications

Created: 4 Jul 2024, 2:44 a.m.

Panel version: 1.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurocutaneous syndrome, MONDO:0042983, SREBF2-related
OMIM
600481
Clinvar variants
Variants in SREBF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srebf2 has been classified as Amber List (Moderate Evidence).

4 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srebf2 has been classified as Amber List (Moderate Evidence).

4 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SREBF2 was added gene: SREBF2 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF2 were set to 38847193 Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Review for gene: SREBF2 was set to AMBER