Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

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 13 panels

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Copied from the Osteogenesis imperfecta panel
Created: 24 Sep 2021, 5:23 p.m. | Last Modified: 24 Sep 2021, 5:23 p.m.
Panel Version: 2.123
Comment on list classification: Promoting from grey to amber. Only 2 cases reported in literature so waiting for further GMS feedback on the rating of this gene.
Created: 15 Sep 2021, 1:24 p.m. | Last Modified: 15 Sep 2021, 1:24 p.m.
Panel Version: 2.25
Associated with Osteogenesis imperfecta, type XIX #301014 (AR) in OMIM.

PMID: 27380894 - Lindert et al 2016 - report two independent OI pedigrees (Thai and German) without symptoms of any dermatological condition previously associated with variants in this gene(ichthyosis follicularis, atrichia, and photophobia (IFAP); BRESEK/BRESHECK syndrome; and keratosis follicularis spinulosa decalvans (KFSD)). In both families missense mutations were identified which was in or near the S2P NPDG motif vital for metal ion coordination. All those affected were male. Mutant S2P protein was found to be stable but cleavage or activation of S2P substrates OASIS and ATF6, respectively, was impaired, consistent with reduced proband collagen secretion.

A search of PubMed finds no further cases.
Created: 15 Sep 2021, 1:05 p.m. | Last Modified: 15 Sep 2021, 1:18 p.m.
Panel Version: 2.24

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

Phenotypes
Osteogenesis imperfecta, type XIX, OMIM:301014

Publications

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Well established gene in OI first published in 2016 and more cases published since.
Created: 8 Sep 2021, 12:35 p.m. | Last Modified: 8 Sep 2021, 12:35 p.m.
Panel Version: 2.23

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

Phenotypes
Ostoegenesis Imperfecta; Fractures

Publications

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XIX, OMIM:301014
  • osteogenesis imperfecta, type 19, MONDO:0049223
Tags
Q3_21_rating Q3_21_expert_review
OMIM
300294
Clinvar variants
Variants in MBTPS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2021, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: MBTPS2 was added gene: MBTPS2 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Amber Q3_21_rating, Q3_21_expert_review tags were added to gene: MBTPS2. 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, OMIM:301014; osteogenesis imperfecta, type 19, MONDO:0049223