Genomics England

FBXL4

F-box and leucine rich repeat protein 4

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 8.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), OMIM:615471
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198