Malformations of cortical development
Gene: CRADDThe 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
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
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 listCreated: 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
Tag Q3_21_rating was removed from gene: CRADD.
Source Expert Review Green was added to CRADD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Publications for gene: CRADD were set to 27773430
Gene: cradd has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: CRADD.
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