SPATA5

spermatogenesis associated 5
OMIM: 613940, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SPATA5 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green SPATA5 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green SPATA5 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green SPATA5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green SPATA5 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green SPATA5 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green SPATA5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green SPATA5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Green SPATA5 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green SPATA5 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green SPATA5 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name