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11 Oct 2023	Skeletal dysplasia v4.20	GPX4	Eleanor Williams Tag Q2_23_promote_green was removed from gene: GPX4.
11 Oct 2023	Skeletal dysplasia v4.20	GPX4	Eleanor Williams edited their review of gene: GPX4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Skeletal dysplasia v4.19	GPX4	Eleanor Williams Source Expert Review Green was added to GPX4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
25 May 2023	Skeletal dysplasia v4.6	GPX4	Achchuthan Shanmugasundram Classified gene: GPX4 as Amber List (moderate evidence)
25 May 2023	Skeletal dysplasia v4.6	GPX4	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (>3 unrelated cases) available for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Skeletal dysplasia v4.6	GPX4	Achchuthan Shanmugasundram Gene: gpx4 has been classified as Amber List (Moderate Evidence).
25 May 2023	Skeletal dysplasia v4.5	GPX4	Achchuthan Shanmugasundram Publications for gene: GPX4 were set to 24706940; 32827718; 34931062
25 May 2023	Skeletal dysplasia v4.5	GPX4	Achchuthan Shanmugasundram Publications for gene: GPX4 were set to 24706940
25 May 2023	Skeletal dysplasia v4.4	GPX4	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: GPX4.
25 May 2023	Skeletal dysplasia v4.4	GPX4	Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718, 34931062; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Feb 2022	Skeletal dysplasia v2.168	GPX4	Zornitza Stark changed review comment from: PMID: 32827718 1x consaguineous family with 2x infants who died within first week of life. Homozygous frameshift variant.; to: PMID: 32827718 New consaguineous family with 2x infants who died within first week of life. Homozygous frameshift variant.
03 Feb 2022	Skeletal dysplasia v2.168	GPX4	Zornitza Stark reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Jul 2019	Skeletal dysplasia v1.190	GPX4	Eleanor Williams Classified gene: GPX4 as Amber List (moderate evidence)
17 Jul 2019	Skeletal dysplasia v1.190	GPX4	Eleanor Williams Added comment: Comment on list classification: Demoting from Green to Amber. 3 variants but only 2 cases.
17 Jul 2019	Skeletal dysplasia v1.190	GPX4	Eleanor Williams Gene: gpx4 has been classified as Amber List (Moderate Evidence).
07 May 2019	Skeletal dysplasia v1.154	GPX4	Eleanor Williams commented on gene: GPX4: PMID: 24706940 - Smith et al 2014 - 2 cases. Case 1 - child with Sedaghatian-type spondylometaphyseal dysplasia (SSMD) heterozygous for two rare variants in GPX4;(c.587+5G>A) was inherited from the mother, and the second (c.588-8_588-4del) was de novo; both were predicted to impact splicing of GPX4. Case 2 - DNA from the child with SSMD was not available, the two unaffected parents were found by Sanger sequencing to each carry the same heterozygous stop mutation in exon 3 of GPX4, c.381C>A, p.Tyr127*. So 3 variants but from 2 cases. PubMed search did not find any other cases.
06 May 2019	Skeletal dysplasia v1.153	GPX4	Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 for gene: GPX4 Publications for gene GPX4 were changed from to 24706940
06 Mar 2019	Skeletal dysplasia v1.147	GPX4	Tracy Lester reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type 250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Mar 2019	Skeletal dysplasia v1.146	GPX4	Eleanor Williams reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Mar 2019	Skeletal dysplasia v1.145	GPX4	Eleanor Williams Source NHS GMS was added to GPX4. Rating Changed from Green List (high evidence) to Green List (high evidence)