SLC5A6

solute carrier family 5 member 6
OMIM: 604024, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SLC5A6 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 1 MIM#613135
Green SLC5A6 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Green SLC5A6 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Green SLC5A6 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Green SLC5A6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Green SLC5A6 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
Green SLC5A6 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Green SLC5A6 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags treatable metabolic