TBC1D32

TBC1 domain family member 32
OMIM: 615867, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TBC1D32 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Alsahan-Harris syndrome, MIM#621307
Green TBC1D32 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX, MIM#258865 Alsahan-Harris syndrome, MIM#621307 Retinitis pigmentosa 100, MIM# 621280
Green TBC1D32 in Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Version 1.21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Alsahan-Harris syndrome, MIM#621307 Orofaciodigital syndrome type IX, MIM#258865
Green TBC1D32 in Mendeliome Version 1.3795	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX, MIM#258865 Alsahan-Harris syndrome, MIM#621307 Retinitis pigmentosa 100, MIM# 621280
Green TBC1D32 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alsahan-Harris syndrome, MIM#621307 Orofaciodigital syndrome type IX, MIM#258865
Green TBC1D32 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Orofacial digital syndrome type IX, MIM#258865
Green TBC1D32 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.225 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Retinitis pigmentosa 100, MIM# 621280
Green TBC1D32 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic hypopituitarism
Green TBC1D32 in Fetal anomalies Version 1.481	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Alsahan-Harris syndrome, MIM#621307 Orofaciodigital syndrome type IX, MIM#258865
Green TBC1D32 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.74	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Syndromic hypopituitarism