SPATA5

spermatogenesis associated 5
OMIM: 613940
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.50
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577