Palmoplantar Keratoderma and Erythrokeratoderma
Gene: MBTPS2EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome.
Erythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome.
Sources: LiteratureCreated: 19 Aug 2020, 6:43 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Olmsted syndrome, X-linked (MIM#300918)
- Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800)
- IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
- OMIM
- 300294
- Clinvar variants
- Variants in MBTPS2
- Penetrance
- unknown
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Hair disorders
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Palmoplantar Keratoderma and Erythrokeratoderma
- Fetal anomalies
- Additional findings_Paediatric
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Ichthyosis
- Callosome
- Ectodermal Dysplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mbtps2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mbtps2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: MBTPS2 was added gene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205) Penetrance for gene: MBTPS2 were set to unknown Review for gene: MBTPS2 was set to GREEN