TMEM94:Ensemblv115

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TMEM94 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 30526868
Green TMEM94 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES IDDCDF
Amber TMEM94 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Green TMEM94 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Green TMEM94 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316

5 panels