TBC1D32

TBC1 domain family member 32
OMIM: 615867, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TBC1D32 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795
Red TBC1D32 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Expert Review Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795
Green TBC1D32 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert review Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Syndromic Hypopituitarism
Green TBC1D32 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795
Green TBC1D32 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Green TBC1D32 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TBC1D32-related ciliopathy Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Amber TBC1D32 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa 100, OMIM:621280 retinitis pigmentosa, MONDO:0019200 Tags Q2_25_ promote_green dd_review
Amber TBC1D32 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Green TBC1D32 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Green TBC1D32 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Red TBC1D32 in Neurological ciliopathies Level 2: Neurology Version 6.13 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871
Red TBC1D32 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome IX, OMIM:258865 orofaciodigital syndrome IX, MONDO:0009795 Alsahan-Harris syndrome, OMIM:621307 Alsahan-Harris syndrome, MONDO:0979871