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  3. FLVCR1
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Intellectual disability syndromic and non-syndromic

Gene: FLVCR1

Green List (high evidence)
FLVCR1 (feline leukemia virus subgroup C cellular receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 14 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Created: 3 Oct 2024, 6:07 a.m. | Last Modified: 3 Oct 2024, 6:07 a.m.
Panel Version: 0.6307

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, FLVCR1-related

Publications

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

Created: 3 Oct 2024, 6:07 a.m.
Last Modified: 3 Oct 2024, 6:07 a.m.
Panel version: 0.6307

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

progressive neurological condition, ID is not really part of the phenotype.
Created: 3 Dec 2019, 8:18 a.m. | Last Modified: 3 Dec 2019, 8:18 a.m.
Panel Version: 0.238

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, posterior column, with retinitis pigmentosa, MIM#609033

Created: 3 Dec 2019, 8:18 a.m.
Last Modified: 3 Dec 2019, 8:18 a.m.
Panel version: 0.238

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related

3 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FLVCR1 were set to

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flvcr1 has been classified as Green List (High Evidence).

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flvcr1 has been classified as Red List (Low Evidence).

3 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033

3 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flvcr1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLVCR1 was added gene: FLVCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLVCR1 was set to Unknown