SPTBN4

spectrin beta, non-erythrocytic 4
OMIM: 606214, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red SPTBN4 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Myopathy, congenital, with neuropathy and deafness, 617519
Amber SPTBN4 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 Tags Q1_23_promote_green
Green SPTBN4 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519
Green SPTBN4 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Amber SPTBN4 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Tags watchlist
Amber SPTBN4 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Green SPTBN4 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Amber SPTBN4 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Tags to_be_confirmed_NHSE for-review
Green SPTBN4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519