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DDG2P

Gene: CRADD

Red List (low evidence)
CRADD (CASP2 and RIPK1 domain containing adaptor with death domain)
EnsemblGeneIds (GRCh38): ENSG00000169372
EnsemblGeneIds (GRCh37): ENSG00000169372
OMIM: 603454, Gene2Phenotype
CRADD is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CRADD-related intellectual developmental disorder with variant lissencephaly are limited, biallelic_autosomal and undetermined (PMIDs: 22279524, 27773430). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01409.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 22279524;27773430).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:614499.0; MONDO:0013785; CRADD-related intellectual developmental disorder with variant lissencephaly; INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:44 p.m.
DDG2P mode of pathogenicity for both disorders: all missense/in frame Multiple ratings in DD-G2P download: Rated possible for MENTAL RETARDATION, NON-SYNDROMIC 614499 and rated probable for Megalencephaly with Variant Lissencephaly.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
OMIM
603454
Clinvar variants
Variants in CRADD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CRADD was changed from Other to None

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly; MENTAL RETARDATION, NON-SYNDROMIC 614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499

7 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: CRADD.

4 Oct 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to CRADD. Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: DDG2P mode of pathogenicity fo

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CRADD.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes Megalencephaly with Variant Lissencephaly for gene: CRADD Publications for gene CRADD were changed from 22279524 to 27773430

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CRADD was added gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRADD were set to 22279524 Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499 Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments