USP14

ubiquitin specific peptidase 14
OMIM: 607274, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red USP14 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
Green USP14 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related
Green USP14 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features no OMIM #
Amber USP14 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 Amber Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related
Green USP14 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features