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| Osteogenesis imperfecta v2.46 | MBTPS2 | Eleanor Williams Publications for gene: MBTPS2 were set to 27380894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.43 | MBTPS2 |
Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2. Tag Q3_21_NHS_review was removed from gene: MBTPS2. Tag Q3_21_expert_review was removed from gene: MBTPS2. |
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| Osteogenesis imperfecta v2.43 | MBTPS2 | Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.37 | MBTPS2 | Michael Oldridge reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34093655; Phenotypes: OI type XIX OMIM301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.37 | MBTPS2 | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MBTPS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.25 | MBTPS2 | Eleanor Williams Classified gene: MBTPS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.25 | MBTPS2 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.25 | MBTPS2 | Eleanor Williams Gene: mbtps2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.24 | MBTPS2 |
Eleanor Williams changed review comment from: 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 find no further cases.; to: 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. |
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| Osteogenesis imperfecta v2.24 | MBTPS2 | Eleanor Williams Phenotypes for gene: MBTPS2 were changed from Osteogenesis imperfecta, type XIX, MIM# 301014 to Osteogenesis imperfecta, type XIX, OMIM:301014; osteogenesis imperfecta, type 19, MONDO:0049223 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.23 | MBTPS2 |
Eleanor Williams Tag Q3_21_rating tag was added to gene: MBTPS2. Tag Q3_21_expert_review tag was added to gene: MBTPS2. |
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| Osteogenesis imperfecta v2.23 | MBTPS2 | Eleanor Williams reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27380894; Phenotypes: Osteogenesis imperfecta, type XIX, OMIM:301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.23 | MBTPS2 | Meena Balasubramanian reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894; Phenotypes: Ostoegenesis Imperfecta, Fractures; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | MBTPS2 |
Zornitza Stark 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 Added comment: Two unrelated families reported with multiple male affected individuals. Sources: Expert list |
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