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 3.79
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 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome 616577
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome, 616577
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome 616577