Skeletal dysplasia
Gene: UBA2

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

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

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
Created: 2 Aug 2021, 5:46 a.m. | Last Modified: 2 Aug 2021, 5:46 a.m.

Panel Version: 0.109

Phenotypes
isolated split hand malformation

Publications

34159400

Created: 2 Aug 2021, 5:46 a.m.
Last Modified: 2 Aug 2021, 5:46 a.m.
Panel version: 0.109

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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
Created: 20 Apr 2020, 11:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly

Publications

Created: 20 Apr 2020, 11:53 p.m.

Panel version: 0.16

Elena Savva (Victorian Clinical Genetics Services)

I don't know

No OMIM phenotype

PMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients 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
Created: 20 Apr 2020, 5:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly

Publications

PMID: 31332306
31587267

Created: 20 Apr 2020, 5:59 a.m.

Panel version: Imported from Mendeliome panel version 0.2440

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature
Literature

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