Genomics England

integrator complex subunit 11

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428