FLVCR1

feline leukemia virus subgroup C cellular receptor 1
OMIM: 609144, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red FLVCR1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green FLVCR1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Amber FLVCR1 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Green FLVCR1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Ataxia, posterior column, with retinitis pigmentosa, Posterior Column Ataxia with Retinitis Pigmentosa
No list FLVCR1 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes insensitivity to pain neurodevelopmental delay joint hypermobility scoliosis dysautonomia
Amber FLVCR1 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Amber FLVCR1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Red FLVCR1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa Ataxia, posterior column, with retinitis pigmentosa,
Green FLVCR1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Green FLVCR1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033
Green FLVCR1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Retinitis pigmentosa, sensory ganglionopathy and abnormal posterior columns on MRI
Red FLVCR1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.123 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Amber FLVCR1 in Intellectual disability Level 2: Developmental disorders Version 9.280 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Green FLVCR1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Green FLVCR1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Red FLVCR1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Eye Disorders
Green FLVCR1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177
Red FLVCR1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH