Genomics England

SRY-box 11

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Coffin-Siris syndrome 9, OMIM:615866
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Coffin-Siris syndrome 9, OMIM:615866
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, Coffin-Siris syndrome 9, 615866