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  2. Intellectual disability syndromic and non-syndromic
  3. UPB1
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Intellectual disability syndromic and non-syndromic

Gene: UPB1

Green List (high evidence)
UPB1 (beta-ureidopropionase 1)
EnsemblGeneIds (GRCh38): ENSG00000100024
EnsemblGeneIds (GRCh37): ENSG00000100024
OMIM: 606673, Gene2Phenotype
UPB1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is not a consistent feature, but sufficient number identified with ID. Variability in phenotype likely relates to amount of residual enzymatic activity present. Ancillary assays available to confirm diagnosis if variants in gene identified, promoted to Green.
Created: 29 Jan 2021, 11:44 p.m. | Last Modified: 29 Jan 2021, 11:44 p.m.
Panel Version: 0.3410

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency, MIM# 613161

Publications

Created: 29 Jan 2021, 11:44 p.m.
Last Modified: 29 Jan 2021, 11:44 p.m.
Panel version: 0.3410

Chirag Patel (Genetic Health Queensland)

I don't know

ID/DD is not a consistent feature reported in these patients.
Created: 12 Feb 2020, 3:37 a.m. | Last Modified: 12 Feb 2020, 3:37 a.m.
Panel Version: 0.2131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency; OMIM #613161

Created: 12 Feb 2020, 3:37 a.m.
Last Modified: 12 Feb 2020, 3:37 a.m.
Panel version: 0.2131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Beta-ureidopropionase deficiency, OMIM #613161
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upb1 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, OMIM #613161

29 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UPB1 were set to

29 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upb1 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: upb1 has been classified as Amber List (Moderate Evidence).

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: upb1 has been classified as Amber List (Moderate Evidence).

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: upb1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UPB1 was added gene: UPB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPB1 was set to Unknown