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Intellectual disability

Gene: CRADD

Green List (high 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

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:52 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MENTAL RETARDATION, NON-SYNDROMIC

Publications

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Now reported in 5 Mennonite patients, 2 Turkish siblings, 1 Finnish woman, 1 man of western European origin reported with homozygous missense variants in this gene for Mental retardation, autosomal recessive 34, with variant lissencephaly. Evidence for segregation in the Turkish siblings
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 34, with variant lissencephaly 614499

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly 614499
OMIM
603454
Clinvar variants
Variants in CRADD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CRADD.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to CRADD. Panel: Intellectual disability Publications for gene CRADD was set to ['22279524', '27773430']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CRADD was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CRADD was created by ellenmcdonagh