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Intellectual disability syndromic and non-syndromic

Gene: DDB1

Green List (high evidence)

DDB1 (damage specific DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000167986
EnsemblGeneIds (GRCh37): ENSG00000167986
OMIM: 600045, Gene2Phenotype
DDB1 is in 2 panels

2 reviews

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

8 individuals with de novo missense variants and varying degrees of intellectual disability, hypotonia, and some malformations, brachydactyly and syndactyly. Functional evidence of abnormal DNA repair in patient lymphoblasts.
Created: 25 Mar 2021, 10:31 p.m. | Last Modified: 25 Mar 2021, 10:31 p.m.
Panel Version: 0.3548

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

High quality unpublished evidence.
Sources: Research
Created: 30 Nov 2019, 3:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • White-Kernohan syndrome, MIM# 619426
  • Syndromic intellectual disability
OMIM
600045
Clinvar variants
Variants in DDB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDB1 were changed from Syndromic intellectual disability to White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability

26 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDB1 were set to

30 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddb1 has been classified as Green List (High Evidence).

30 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddb1 has been classified as Green List (High Evidence).

30 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDB1 was added gene: DDB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Research Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DDB1 were set to Syndromic intellectual disability Review for gene: DDB1 was set to GREEN