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Intellectual disability syndromic and non-syndromic

Gene: DIP2B

No list

DIP2B (disco interacting protein 2 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000066084
EnsemblGeneIds (GRCh37): ENSG00000066084
OMIM: 611379, Gene2Phenotype
DIP2B is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Only repeat expansion reported. Added as an STR
Created: 10 Dec 2020, 3:04 a.m. | Last Modified: 10 Dec 2020, 3:04 a.m.
Panel Version: 0.3272

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

5'UTR CGG repeat implicated.
Created: 1 Feb 2020, 9:20 a.m. | Last Modified: 1 Feb 2020, 9:20 a.m.
Panel Version: 0.1889

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, FRA12A type, MIM# 136630

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, FRA12A type, MIM# 136630
Tags
5'UTR
OMIM
611379
Clinvar variants
Variants in DIP2B
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

10 Dec 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dip2b has been removed from the panel.

1 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dip2b has been classified as Amber List (Moderate Evidence).

1 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630

1 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIP2B were set to

1 Feb 2020, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DIP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dip2b has been classified as Amber List (Moderate Evidence).

1 Feb 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: DIP2B.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DIP2B was added gene: DIP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIP2B was set to Unknown