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Date	Panel	Item	Activity
Filter activities 24 actions
02 Nov 2023	Prepair 1000+ v1.3	SLC6A8	Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8
02 Nov 2023	Prepair 1000+ v1.3	SLC6A5	Seb Lunke Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5
02 Nov 2023	Prepair 1000+ v1.3	ERCC6	Seb Lunke Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6
11 Aug 2022	Prepair 1000+ v0.101	C6	Zornitza Stark Marked gene: C6 as ready
11 Aug 2022	Prepair 1000+ v0.101	C6	Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
11 Aug 2022	Prepair 1000+ v0.101	C6	Zornitza Stark Publications for gene: C6 were set to
11 Aug 2022	Prepair 1000+ v0.100	C6	Zornitza Stark Classified gene: C6 as Red List (low evidence)
11 Aug 2022	Prepair 1000+ v0.100	C6	Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
11 Aug 2022	Prepair 1000+ v0.99	C6	Zornitza Stark Tag for review was removed from gene: C6.
11 Aug 2022	Prepair 1000+ v0.99	C6	Zornitza Stark reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Jul 2022	Prepair 1000+ v0.58	C6	Zornitza Stark Tag for review tag was added to gene: C6.
21 Jul 2022	Prepair 1000+ v0.58	C6	Crystle Lee reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31440263, 23537992, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Jun 2022	Prepair 1000+ v0.0	TRAPPC6B	Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267 Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
01 Jun 2022	Prepair 1000+ v0.0	ABCC6	Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
01 Jun 2022	Prepair 1000+ v0.0	SLC6A8	Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
01 Jun 2022	Prepair 1000+ v0.0	SLC6A5	Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
01 Jun 2022	Prepair 1000+ v0.0	SLC6A3	Zornitza Stark gene: SLC6A3 was added gene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
01 Jun 2022	Prepair 1000+ v0.0	ORC6	Zornitza Stark gene: ORC6 was added gene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
01 Jun 2022	Prepair 1000+ v0.0	LRRC6	Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
01 Jun 2022	Prepair 1000+ v0.0	GPC6	Zornitza Stark gene: GPC6 was added gene: GPC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
01 Jun 2022	Prepair 1000+ v0.0	ERCC6L2	Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
01 Jun 2022	Prepair 1000+ v0.0	ERCC6	Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
01 Jun 2022	Prepair 1000+ v0.0	DNAJC6	Zornitza Stark gene: DNAJC6 was added gene: DNAJC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
01 Jun 2022	Prepair 1000+ v0.0	C6	Zornitza Stark gene: C6 was added gene: C6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)