Genomics England

TBC1D32

TBC1 domain family member 32

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes TBC1D32-related ciliopathy, Orofaciodigital syndrome IX, OMIM:258865, orofaciodigital syndrome IX, MONDO:0009795, Alsahan-Harris syndrome, OMIM:621307, Alsahan-Harris syndrome, MONDO:0979871
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome IX, OMIM:258865, orofaciodigital syndrome IX, MONDO:0009795, Alsahan-Harris syndrome, OMIM:621307, Alsahan-Harris syndrome, MONDO:0979871
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome, MONDO:0015375
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome IX, OMIM:258865, orofaciodigital syndrome IX, MONDO:0009795
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome IX, OMIM:258865, orofaciodigital syndrome IX, MONDO:0009795, Alsahan-Harris syndrome, OMIM:621307, Alsahan-Harris syndrome, MONDO:0979871
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome IX, OMIM:258865, orofaciodigital syndrome IX, MONDO:0009795, Syndromic Hypopituitarism
Green in Retinal disorders R-numbers: R32 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa 100, OMIM:621280, retinitis pigmentosa, MONDO:0019200