Fetal anomalies
Gene: CRADD

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

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 2 Nov 2021, 12:05 p.m. | Last Modified: 2 Nov 2021, 12:05 p.m.

Panel Version: 1.755

Created: 2 Nov 2021, 12:05 p.m.
Last Modified: 2 Nov 2021, 12:05 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Intellectual disability; Malformations of cortical development (pending)

Details of review:
Daum et al 2019 (PMID: 29947050) report a fetus with lissencephaly and family h/o previous ToP also for lissencephaly. Also PMID: 27773430 reporting at least 5 families (paediatric cases) where brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex.
Created: 29 Oct 2021, 1:52 p.m. | Last Modified: 29 Oct 2021, 1:52 p.m.

Panel Version: 1.749

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 34, with variant lissencephaly

Publications

PMID: 29947050
27773430

Created: 29 Oct 2021, 1:52 p.m.
Last Modified: 29 Oct 2021, 1:52 p.m.
Panel version: 1.749

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly
Created: 11 Dec 2018, 9:04 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

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