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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome 616577
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome 616577
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome, 616577