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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060

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, 5:48 a.m. | Last Modified: 3 Oct 2024, 5:48 a.m.
Panel Version: 1.2037
At least 5 unrelated families reported with visual impairment and ataxia. Onset is usually in childhood.
Created: 11 May 2022, 4:04 a.m. | Last Modified: 11 May 2022, 4:04 a.m.
Panel Version: 0.14087

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060
OMIM
609144
Clinvar variants
Variants in FLVCR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLVCR1 were changed from posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLVCR1 were changed from posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177 to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related

11 May 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 May 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FLVCR1 were changed from to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177

11 May 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FLVCR1 were set to

11 May 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLVCR1 was set to Unknown