Ectodermal Dysplasia
Gene: MBTPS2EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 15 panels
2 reviews
Daniel Flanagan (Victorian Clinical Genetics Services)
Osteogenesis Imperfecta: Two unrelated families reported with multiple male affected individuals.
>3 families reported with Ichthyosis Follicularis, Alopecia, and Photophobia syndrome, which includes growth retardation and microcephaly.Created: 22 Nov 2021, 1:27 a.m. | Last Modified: 22 Nov 2021, 1:27 a.m.
Panel Version: 0.9779
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Osteogenesis imperfecta, type XIX, (MIM301014); IFAP syndrome with or without BRESHECK syndrome (MIM#308205); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); ?Olmsted syndrome, X-linked (MIM#300918)
Publications
Bryony Thompson (Royal Melbourne Hospital)
>3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome
Sources: NHS GMSCreated: 17 May 2021, 6:18 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
IFAP syndrome with or without BRESHECK syndrome MIM#308205
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- IFAP syndrome with or without BRESHECK syndrome MIM#308205
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: mbtps2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)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 Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MBTPS2 were set to 19361614; 22105905; 24313295 Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205 Review for gene: MBTPS2 was set to GREEN