1. Panels
  2. Osteogenesis Imperfecta and Osteoporosis
  3. MBTPS2
STRs in panel
Prev Next
Regions in panel
Prev Next

Osteogenesis Imperfecta and Osteoporosis

Gene: MBTPS2

Amber List (moderate 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported with multiple male affected individuals.
Sources: Expert list
Created: 27 Jul 2020, 12:26 a.m.

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

Phenotypes
Osteogenesis imperfecta, type XIX, MIM# 301014

Publications

Created: 27 Jul 2020, 12:26 a.m.

Panel version: 0.36

History Filter Activity

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps2 has been classified as Amber List (Moderate Evidence).

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps2 has been classified as Amber List (Moderate Evidence).

27 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MBTPS2 was added gene: MBTPS2 was added to Osteogenesis Imperfecta. 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 27380894 Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM# 301014 Review for gene: MBTPS2 was set to AMBER