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Limb disorders

Gene: MBTPS2

Red List (low evidence)

MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Single case of IFAP syndrome with or without BRESHECK syndrome 308205 reported with unilateral postaxial polydactyly.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
IFAP syndrome with or without BRESHECK syndrome 308205

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome 308205
  • Polydactyly
OMIM
300294
Clinvar variants
Variants in MBTPS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Single case of IFAP syndrome w

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mbtps2 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to MBTPS2. Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 for gene: MBTPS2 Publications for gene MBTPS2 were changed from to 9021007

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBTPS2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MBTPS2 was created by Ellen McDonagh