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Intellectual disability syndromic and non-syndromic

Gene: SETBP1

Green List (high evidence)

SETBP1 (SET binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000152217
EnsemblGeneIds (GRCh37): ENSG00000152217
OMIM: 611060, Gene2Phenotype
SETBP1 is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE for both conditions by ClinGen ID and Autism GCEP.

SGS classified on 16/02/2021 - https://search.clinicalgenome.org/CCID:006117
Complex neurodevelopmental disorders on 20/10/2020 - https://search.clinicalgenome.org/CCID:006116

LoF is associated with complex neurodevelopmental disorder. There have been 20 LoF variants reported in individuals so far (nonsense, frameshift, large deletions)

GoF is proposed to be the mechanism of disease for Schinzel-Giedion syndrome (SGS) due to an increase in SETBP1 protein production. Missense variants (especially affecting p.868-871) are known to be disease causing.
Created: 20 May 2024, 12:38 a.m. | Last Modified: 20 May 2024, 12:38 a.m.
Panel Version: 0.5821

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schinzel-Giedion syndrome MONDO:0010010; complex neurodevelopmental disorder MONDO:0100038

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Schinzel-Giedion syndrome MONDO:0010010
  • complex neurodevelopmental disorder MONDO:0100038
OMIM
611060
Clinvar variants
Variants in SETBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: setbp1 has been classified as Green List (High Evidence).

20 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion syndrome MONDO:0010010; complex neurodevelopmental disorder MONDO:0100038

20 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SETBP1 were set to

20 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SETBP1 was added gene: SETBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETBP1 was set to Unknown