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Intellectual disability

Gene: FZR1

Green List (high evidence)
FZR1 (fizzy and cell division cycle 20 related 1)
EnsemblGeneIds (GRCh38): ENSG00000105325
EnsemblGeneIds (GRCh37): ENSG00000105325
OMIM: 603619, Gene2Phenotype
FZR1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 19 Jul 2024, 4:32 p.m. | Last Modified: 19 Jul 2024, 4:32 p.m.
Panel Version: 6.63
PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. There is functional evidence available for variants reported in this study.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature
Created: 19 Jul 2024, 4:29 p.m. | Last Modified: 19 Jul 2024, 4:30 p.m.
Panel Version: 6.62

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 109, OMIM:620145

Publications

Created: 19 Jul 2024, 4:29 p.m.
Last Modified: 19 Jul 2024, 4:30 p.m.
Panel version: 6.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 109, OMIM:620145
OMIM
603619
Clinvar variants
Variants in FZR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: FZR1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to FZR1. Source Expert Review Green was added to FZR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: fzr1 has been classified as Amber List (Moderate Evidence).

19 Jul 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FZR1 was added gene: FZR1 was added to Intellectual disability. Sources: Literature Q3_24_promote_green tags were added to gene: FZR1. Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, OMIM:620145 Review for gene: FZR1 was set to GREEN