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Intellectual disability

Gene: FRY

Red List (low evidence)

FRY (FRY microtubule binding protein)
EnsemblGeneIds (GRCh38): ENSG00000073910
EnsemblGeneIds (GRCh37): ENSG00000073910
OMIM: 614818, Gene2Phenotype
FRY is in 2 panels

4 reviews

Zornitza Stark (Australian Genomics)

I don't know

Borderline Amber/Green gene, additional consanguineous families reported as part of big cohorts reporting multiple novel gene candidates plus another individual reported with homozygous deletion.
Created: 3 Feb 2020, 4:38 a.m. | Last Modified: 3 Feb 2020, 4:38 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Possible DD gene for AUTOSOMAL RECESSIVE MENTAL RETARDATION in Gene2Phenotype. Not associated with a disease in OMIM. Candidate gene for ID in PMID 26350204 (Grozeva et al, 2015). Truncating variant reported in a family in PMID:21937992. Not yet enough evidence - no other reports identifed in the literature.
Created: 13 Dec 2017, 9:46 p.m.

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
watchlist
OMIM
614818
Clinvar variants
Variants in FRY
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

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)

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

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FRY was created by ellenmcdonagh