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| Structural eye disease v3.79 | BMPR1B |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: BMPR1B. Tag Q4_23_NHS_review was removed from gene: BMPR1B. |
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| Structural eye disease v3.79 | BMPR1B | Arina Puzriakova reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | BMPR1B |
Arina Puzriakova Source NHS GMS was added to BMPR1B. Source Expert Review Green was added to BMPR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.28 | BMPR1B |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: BMPR1B. Tag Q4_23_NHS_review tag was added to gene: BMPR1B. |
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| Structural eye disease v3.28 | BMPR1B | Sarah Leigh Classified gene: BMPR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.28 | BMPR1B | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.28 | BMPR1B | Sarah Leigh Gene: bmpr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.27 | BMPR1B | Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:609441, OMIM:616849 or OMIM:112600. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.27 | BMPR1B | Sarah Leigh Phenotypes for gene: BMPR1B were changed from Ocular coloboma to Ocular coloboma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.26 | BMPR1B | Sarah Leigh commented on gene: BMPR1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | BMPR1B |
Hannah Knight gene: BMPR1B was added gene: BMPR1B was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1B were set to 35034853 Phenotypes for gene: BMPR1B were set to Ocular coloboma Review for gene: BMPR1B was set to GREEN Added comment: Four unrelated families with BMPR1B variants reported: 1. Two affected siblings with bilateral optic disc coloboma. Mother confirmed heterozygote - NM_001203.2:c.272G>T, p.(Arg91Ile) 2. Single proband with unilateral right microphthalmia, right dense cataract and persistent hyperplastic primary vitreous. No family history. De novo variant - NM_001203.2:c.1127G>A, p.(Arg376Glu) 3. Patient with bilateral iris and chorioretinal coloboma - c.671G>A, p.(Arg224His) 4. Patient with right iris and bilateral chorioretinal coloboma - c.671G>T, p.(Arg224Leu) Sources: Literature |
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