SLC35B2

solute carrier family 35 member B2
OMIM: 610788, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber SLC35B2 in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid
Amber SLC35B2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid
Red SLC35B2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy
Amber SLC35B2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid