ROBO1

roundabout guidance receptor 1
OMIM: 602430, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ROBO1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.160 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculorenal syndrome, MIM# 620305
Green ROBO1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.510	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Tetralogy of Fallot septal defects
Green ROBO1 in Mendeliome Version 1.3795	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303 Nystagmus 8, congenital, autosomal recessive, MIM# 257400 Neurooculorenal syndrome, MIM# 620305
Green ROBO1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurooculorenal syndrome, MIM# 620305
Green ROBO1 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Red ROBO1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.23	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes nystagmus, congenital, autosomal recessive, MONDO:0009762
Green ROBO1 in Fetal anomalies Version 1.481	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Tetralogy of Fallot and septal defects Congenital heart disease, MONDO:0005453
Green ROBO1 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.74	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303