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Intellectual disability syndromic and non-syndromic

Gene: FEZF2

Green List (high evidence)

FEZF2 (FEZ family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000153266
EnsemblGeneIds (GRCh37): ENSG00000153266
OMIM: 607414, Gene2Phenotype
FEZF2 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

- 7 indiv but 1 has whole gene deletion and 6x SNV (4x PTCs and 2x same missense Arg344Cys)
- of the 6x SNV, 4x de novo + 1x from affected father
- all have ID/ASD
- 1x seizures
- 1x hypotonia
- 1x motor coordination disorder
- 2x enuresis after 7yo
Sources: Literature
Created: 7 Mar 2024, 12:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, FEZF2-related

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, FEZF2-related
OMIM
607414
Clinvar variants
Variants in FEZF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: fezf2 has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: fezf2 has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FEZF2 was added gene: FEZF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: FEZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FEZF2 were set to 38425142 Phenotypes for gene: FEZF2 were set to neurodevelopmental disorder MONDO:0700092, FEZF2-related Review for gene: FEZF2 was set to GREEN gene: FEZF2 was marked as current diagnostic