TBC1D32

TBC1 domain family member 32
OMIM: 615867, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TBC1D32 in Hydrocephalus Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
Red TBC1D32 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Expert Review Phenotypes OFD Tags gene-checked
Green TBC1D32 in Pituitary hormone deficiency Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert review Phenotypes Syndromic Hypopituitarism orofaciodigital syndrome Tags gene-checked
Green TBC1D32 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.4 Latest signed off version: v5.0 (1 May 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, MONDO:0015375 Tags gene-checked
Green TBC1D32 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OFD IX Tags gene-checked
Amber TBC1D32 in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Orofaciodigital syndrome 9, 258865 Tags gene-checked
Green TBC1D32 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
Green TBC1D32 in Ophthalmological ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) 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, MONDO:0015375 Tags gene-checked
Red TBC1D32 in Neurological ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) 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 No OMIM phenotype Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) Tags gene-checked
Red TBC1D32 in Skeletal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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 No OMIM phenotype Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) Tags gene-checked