TMEM94

transmembrane protein 94
Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TMEM94 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 30526868
Green TMEM94 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES IDDCDF
Green TMEM94 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Green TMEM94 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Amber TMEM94 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Green TMEM94 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Green TMEM94 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316