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| Skeletal dysplasia v4.32 | UBA2 |
Eleanor Williams Tag Q4_23_promote_green tag was added to gene: UBA2. Tag Q4_23_NHS_review tag was added to gene: UBA2. |
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| Skeletal dysplasia v4.32 | UBA2 |
Eleanor Williams commented on gene: UBA2: As reviewer notes there are now additional cases reported with variants in UBA2 and skeletal defects including: PMID: 34040189 - Schnur et al 2021 - report 16 individuals from 7 families who have variable phenotypes including Aplasia cutis congenita and skeletal defects. Ectrodyctly is present in some individuals from 4/7 families and other skeletal phenotypes such as hip abnormalities, plagiocephaly, Wormian bones, syndactyly, kyphoscoliosis, Variants were heterozygous rare variants not found in GnomAD and consist of frameshift, nonsense and missense variants. |
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| Skeletal dysplasia v4.15 | UBA2 | Tracy Lester reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.58 | UBA2 | Eleanor Williams edited their review of gene: UBA2: Changed phenotypes: split hand-foot malformation MONDO:0016576, aplasia cutis congenita (disease) MONDO:0007145, ectrodactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.58 | UBA2 | Eleanor Williams Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to split hand-foot malformation MONDO:0016576; aplasia cutis congenita (disease) MONDO:0007145; Ectrodactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.57 | UBA2 | Eleanor Williams Publications for gene: UBA2 were set to 31332306; 31587267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.56 | UBA2 | Eleanor Williams Classified gene: UBA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.56 | UBA2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber as there are two cases with SNVs reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.56 | UBA2 | Eleanor Williams Gene: uba2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.55 | UBA2 | Eleanor Williams edited their review of gene: UBA2: Changed rating: AMBER; Changed publications: 31332306, 24243649, 29988626, 31587267; Changed phenotypes: split hand-foot malformation MONDO:0016576, aplasia cutis congenita (disease) MONDO:0007145; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.55 | UBA2 | Eleanor Williams commented on gene: UBA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.7 | UBA2 |
Zornitza Stark gene: UBA2 was added gene: UBA2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBA2 were set to 31332306; 31587267 Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly Review for gene: UBA2 was set to AMBER Added comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC. Sources: Literature |
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