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  3. MBTPS2
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Hair disorders

Gene: MBTPS2

Green List (high evidence)
MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 15 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well established hair disorder gene.
Sources: Other
Created: 12 Oct 2023, 12:45 a.m.

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

Phenotypes
IFAP syndrome with or without BRESHECK syndrome MONDO:0100213

Publications

Created: 12 Oct 2023, 12:45 a.m.

Panel version: 0.68

History Filter Activity

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps2 has been classified as Green List (High Evidence).

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps2 has been classified as Green List (High Evidence).

12 Oct 2023, Gel status: 0

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

Kaitlyn Dianna Weldon (University of Melbourne)

gene: MBTPS2 was added gene: MBTPS2 was added to Hair disorders. Sources: Other 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 21600032 Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MONDO:0100213 Penetrance for gene: MBTPS2 were set to unknown Review for gene: MBTPS2 was set to GREEN