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Skeletal dysplasia

Gene: UFSP2

Green List (high evidence)

UFSP2 (UFM1 specific peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000109775
EnsemblGeneIds (GRCh37): ENSG00000109775
OMIM: 611482, Gene2Phenotype
UFSP2 is in 4 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37214758:

Additional patient with spondyloepimetaphyseal dysplasia type Di Rocco:
- het missense Cys302Ser
- confirmed de novo in segregation analyses
- absent in gnomAD
- no functional studies on the missense.

Four AD missense reported in the literature so far are located in the C-term catalytic domain - 1x hip dysplasia, Beukes type and 3x spondyloepimetaphyseal dysplasia type Di Rocco.

The well reported AR missense (associated with neurodevelopmental anomalies and epilepsy) is located in the N-terminal domain possibly involved in substrate binding.
Created: 13 May 2024, 3:54 a.m. | Last Modified: 13 May 2024, 3:54 a.m.
Panel Version: 0.272

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.
Created: 25 May 2021, 9:51 a.m. | Last Modified: 25 May 2021, 9:51 a.m.
Panel Version: 0.98

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hip dysplasia, Beukes type, MIM#142669
  • Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
OMIM
611482
Clinvar variants
Variants in UFSP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715

13 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ufsp2 has been classified as Green List (High Evidence).

25 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ufsp2 has been classified as Amber List (Moderate Evidence).

25 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974

25 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UFSP2 were set to 28892125; 26428751

25 May 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ufsp2 has been classified as Amber List (Moderate Evidence).

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UFSP2 was added gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: UFSP2 was set to Publications for gene: UFSP2 were set to 28892125; 26428751 Phenotypes for gene: UFSP2 were set to Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974