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  3. SREBF1
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Cataract

Gene: SREBF1

Green List (high evidence)
SREBF1 (sterol regulatory element binding transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000072310
EnsemblGeneIds (GRCh37): ENSG00000072310
OMIM: 184756, Gene2Phenotype
SREBF1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.
Sources: Expert Review
Created: 17 Oct 2020, 8:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mucoepithelial dysplasia, hereditary, MIM#158310

Publications

Created: 17 Oct 2020, 8:57 p.m.

Panel version: 0.237

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mucoepithelial dysplasia, hereditary, MIM#158310
OMIM
184756
Clinvar variants
Variants in SREBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srebf1 has been classified as Green List (High Evidence).

17 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srebf1 has been classified as Green List (High Evidence).

17 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SREBF1 was added gene: SREBF1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 31790666; 32902915 Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN