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Primary lymphoedema v5.7 ZNHIT3 Ida Ertmanska Classified gene: ZNHIT3 as Amber List (moderate evidence)
Primary lymphoedema v5.7 ZNHIT3 Ida Ertmanska Added comment: Comment on list classification: There are now 2 unrelated probands reported with biallelic missense variants in ZNHIT3 and PEHO syndrome, including oedema. A supportive znhit3 knockdown model in zebrafish showed a syndromic presentation with pericardiac oedema. Hence, this gene can be promoted to Green at the next update.
Primary lymphoedema v5.7 ZNHIT3 Ida Ertmanska Gene: znhit3 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v5.6 ZNHIT3 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ZNHIT3.
Primary lymphoedema v5.6 ZNHIT3 Ida Ertmanska Classified gene: ZNHIT3 as Amber List (moderate evidence)
Primary lymphoedema v5.6 ZNHIT3 Ida Ertmanska Gene: znhit3 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v5.5 ZNHIT3 Ida Ertmanska Phenotypes for gene: ZNHIT3 were changed from PEHO syndrome, 260565 to PEHO syndrome, OMIM:260565; PEHO syndrome, MONDO:0009841
Primary lymphoedema v5.4 ZNHIT3 Ida Ertmanska Publications for gene: ZNHIT3 were set to 28335020
Primary lymphoedema v5.3 ZNHIT3 Ida Ertmanska reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28335020, 31048081, 39252897, 40178020; Phenotypes: PEHO syndrome, OMIM:260565, PEHO syndrome, MONDO:0009841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema ZNHIT3 Rebecca Foulger commented on ZNHIT3
Primary lymphoedema ZNHIT3 Rebecca Foulger classified ZNHIT3 as red
Primary lymphoedema ZNHIT3 Rebecca Foulger added ZNHIT3 to panel
Primary lymphoedema ZNHIT3 Rebecca Foulger reviewed ZNHIT3