TMEM94

transmembrane protein 94
Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green TMEM94 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 Tags gene-checked
Green TMEM94 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism Tags gene-checked
Green TMEM94 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 Global developmental delay Intellectual disability Abnormal heart morphology Abnormality of head or neck Tags gene-checked
Green TMEM94 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316