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  3. SERPINB8
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Ichthyosis

Gene: SERPINB8

Green List (high evidence)
SERPINB8 (serpin family B member 8)
EnsemblGeneIds (GRCh38): ENSG00000166401
EnsemblGeneIds (GRCh37): ENSG00000166401
OMIM: 601697, Gene2Phenotype
SERPINB8 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated families with exfoliative ichthyosis, homozygous for different mutations.
Created: 31 Jan 2020, 9:04 a.m. | Last Modified: 31 Jan 2020, 9:04 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 5 MIM#617115

Publications

Created: 31 Jan 2020, 9:04 a.m.
Last Modified: 31 Jan 2020, 9:04 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 5 MIM#617115
OMIM
601697
Clinvar variants
Variants in SERPINB8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 MIM#617115 to Peeling skin syndrome 5 MIM#617115

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: serpinb8 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5 MIM#617115

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINB8 were set to

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINB8 was added gene: SERPINB8 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINB8 was set to Unknown