Ichthyosis
Gene: MBTPS2EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported.
Sources: Expert listCreated: 31 Jan 2020, 5:12 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- IFAP syndrome with or without BRESHECK syndrome MIM#308205
- follicular ichthyosis
- atrichia of the scalp
- photophobia
- OMIM
- 300294
- Clinvar variants
- Variants in MBTPS2
- Penetrance
- None
- Publications
- 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 publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MBTPS2 was added gene: MBTPS2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 19361614; 21426410 Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia Review for gene: MBTPS2 was set to GREEN