Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SULT2B1EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel.Created: 17 Aug 2020, 9:26 a.m. | Last Modified: 17 Aug 2020, 9:26 a.m.
Panel Version: 0.73
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 28575648;
- 6 affecteds in 3 families (including 2 consanguineous)
- In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI
- in family 2: 1x presented with hyperkeratosis and erythema.
- in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth.
> 2x missense, 1x PTV and 1x splice
PMID: 30578701;
- 2 families reported, both homozygous for a missense
- both presented with palmoplantar keratoderma and only 1 reported with erythroderma
Sources: LiteratureCreated: 17 Aug 2020, 5:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
- OMIM
- 604125
- Clinvar variants
- Variants in SULT2B1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: SULT2B1 was added gene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 (MIM#617571) Penetrance for gene: SULT2B1 were set to unknown Review for gene: SULT2B1 was set to AMBER