SPTAN1

spectrin alpha, non-erythrocytic 1
OMIM: 182810
PanelMode of inheritanceDetails
7 panels
R-numbers: R60
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
R-numbers: R61
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
R-numbers: R54
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277