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Date	Panel	Item	Activity
Filter activities 15 actions
06 Mar 2026	Mendeliome v1.4493	STX4	Zornitza Stark Publications for gene: STX4 were set to 36355422
06 Mar 2026	Mendeliome v1.4492	STX4	Zornitza Stark edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4. Unclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed rating: AMBER; Changed publications: 36355422, 35599850; Changed phenotypes: Deafness, autosomal recessive 123, MIM# 620745; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Mar 2024	Mendeliome v1.1575	STX4	Zornitza Stark Phenotypes for gene: STX4 were changed from Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related. to Deafness, autosomal recessive 123, MIM# 620745
24 Mar 2023	Mendeliome v1.748	STX4	Zornitza Stark Phenotypes for gene: STX4 were changed from to Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related.
24 Mar 2023	Mendeliome v1.747	STX4	Zornitza Stark Publications for gene: STX4 were set to
24 Mar 2023	Mendeliome v1.746	STX4	Zornitza Stark Mode of inheritance for gene: STX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2023	Mendeliome v1.745	STX4	Zornitza Stark Classified gene: STX4 as Amber List (moderate evidence)
24 Mar 2023	Mendeliome v1.745	STX4	Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence).
24 Mar 2023	Mendeliome v1.743	STX4	Achchuthan Shanmugasundram reviewed gene: STX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 36355422; Phenotypes: Hearing impairment, HP:0000365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Marked gene: STX4 as ready
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Classified gene: STX4 as Red List (low evidence)
23 Mar 2022	Mendeliome v0.11812	STX4	Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
23 Mar 2022	Mendeliome v0.11811	STX4	Zornitza Stark reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
17 Nov 2019	Mendeliome v0.0	STX4	Zornitza Stark gene: STX4 was added gene: STX4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STX4 was set to Unknown