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| Mendeliome v1.4506 | FAM20B |
Sangavi Sivagnanasundram changed review comment from: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death). Gene upgraded to green in combination with previous reports of affected individuals and functional reports.; to: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death). Gene to remain as AMBER due to the potential overlap in families between the publications. |
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| Mendeliome v1.3767 | FAM20B | Sangavi Sivagnanasundram reviewed gene: FAM20B: Rating: GREEN; Mode of pathogenicity: None; Publications: 41277483, 30847897; Phenotypes: Desbuquois dysplasia MONDO:0015426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.391 | FAM20B | Bryony Thompson Marked gene: FAM20B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.391 | FAM20B | Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.391 | FAM20B | Bryony Thompson Classified gene: FAM20B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.391 | FAM20B | Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.390 | FAM20B |
Bryony Thompson gene: FAM20B was added gene: FAM20B was added to Mendeliome. Sources: Other Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802 Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426 Review for gene: FAM20B was set to AMBER Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities. Sources: Other |
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