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  3. CRADD
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Malformations of cortical development

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 3:25 p.m. | Last Modified: 8 Mar 2022, 3:25 p.m.
Panel Version: 2.136
Created: 8 Mar 2022, 3:25 p.m.
Last Modified: 8 Mar 2022, 3:25 p.m.
Panel version: 2.136

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Brain phenotypes include megalencephaly with variable lissencephaly/pachygyria. Sufficient number of unrelated cases (>3) to rate as Green on this panel.
Created: 7 Sep 2021, 10:49 a.m. | Last Modified: 7 Sep 2021, 10:49 a.m.
Panel Version: 2.63
Created: 7 Sep 2021, 10:49 a.m.
Last Modified: 7 Sep 2021, 10:49 a.m.
Panel version: 2.63

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex.
Sources: Expert list
Created: 24 Aug 2020, 10:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Aug 2020, 10:54 a.m.

Panel version: 2.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, 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

8 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: CRADD.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CRADD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Sep 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CRADD were changed from Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499

7 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CRADD were set to 27773430

7 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

7 Sep 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: CRADD.

24 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CRADD was added gene: CRADD was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRADD were set to 27773430 Phenotypes for gene: CRADD were set to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Review for gene: CRADD was set to GREEN gene: CRADD was marked as current diagnostic