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  3. UBA2
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Hand and foot malformations

Gene: UBA2

Green List (high evidence)
UBA2 (ubiquitin like modifier activating enzyme 2)
EnsemblGeneIds (GRCh38): ENSG00000126261
EnsemblGeneIds (GRCh37): ENSG00000126261
OMIM: 613295, Gene2Phenotype
UBA2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available)

1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing
Sources: Expert Review
Created: 17 Jul 2022, 8:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly

Publications

Created: 17 Jul 2022, 8:42 a.m.

Panel version: 0.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ACCES syndrome, MIM# 619959
  • Split-Hand/Foot Malformation
  • Aplasia Cutis Congenita
  • Ectrodactyly
OMIM
613295
Clinvar variants
Variants in UBA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba2 has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba2 has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBA2 was added gene: UBA2 was added to Hand and foot malformations. Sources: Expert Review Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBA2 were set to 31332306; 31587267; 34159400 Phenotypes for gene: UBA2 were set to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly Review for gene: UBA2 was set to GREEN