SPATA5L1

spermatogenesis associated 5 like 1
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPATA5L1-associated sensorineural hearing loss and intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616, Deafness, autosomal recessive 119, OMIM:619615
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616