SPEN

spen family transcriptional repressor
OMIM: 613484, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SPEN in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome MIM#619312
Green SPEN in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome MIM#619312
Green SPEN in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome, MIM# 619312 Intellectual disability autism congenital anomalies
Amber SPEN in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome MIM#619312
Amber SPEN in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Radio-Tartaglia syndrome MIM#619312
Green SPEN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Radio-Tartaglia syndrome, MIM# 619312 Intellectual disability autism congenital anomalies
Green SPEN in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Radio-Tartaglia syndrome - MIM#619312