TMEM107

transmembrane protein 107
OMIM: 616183, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TMEM107 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Joubert syndrome 29 617562
Amber TMEM107 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Joubert syndrome 29, MIM# 617562
Green TMEM107 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Joubert syndrome 29, MIM# 617562
Green TMEM107 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Meckel syndrome 13 MIM#617562 Orofaciodigital syndrome XVI MIM#617563
Amber TMEM107 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563)
Amber TMEM107 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Joubert syndrome 29 MIM#617562 Orofaciodigital syndrome XVI MIM#617563
Green TMEM107 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Green TMEM107 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 29, OMIM:617562 Orofaciodigital syndrome 16, MONDO:0033045 Meckel syndrome 13, MONDO:0033044 Orofaciodigital syndrome XVI, OMIM:617563 Meckel syndrome 13, OMIM:617562
Green TMEM107 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive