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Osteogenesis imperfecta

Gene: MBTPS2

No list

MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 12 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

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

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

Phenotypes
Osteogenesis imperfecta, type XIX, MIM# 301014

Publications

History Filter Activity

27 Jul 2020, Gel status: 0

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

Zornitza Stark (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