USP14

ubiquitin specific peptidase 14
OMIM: 607274, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber USP14 in Arthrogryposis Level 2: Neurology Version 10.31 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes syndromic disease, MONDO:0002254 distal arthrogryposis, MONDO:0019942
Green USP14 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes syndromic disease, MONDO:0002254 distal arthrogryposis, MONDO:0019942 Tags gene-checked
Green USP14 in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes USP14-related syndromic neurodevelopmental disorder with arthrogryposis Tags gene-checked
Red USP14 in Intellectual disability Level 2: Developmental disorders Version 11.92 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes syndromic disease, MONDO:0002254