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Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 (3) to Brown-Vialetto-Van Laere syndrome 1, MIM#211530
Prepair 1000+ v1.1747 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 (3) to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Prepair 1000+ v1.1745 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Marked gene: ERCC5 as ready
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Gene: ercc5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780 (3) to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Prepair 1000+ v1.1609 ERCC5 Lilian Downie Publications for gene: ERCC5 were set to
Prepair 1000+ v1.1568 ERCC5 Melanie Marty reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A3 Cassandra Muller reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331, 26976849, 29053833, 25462087; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A2 Lauren Thomas reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26973221, 22864630, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Prepair 1000+ v1.1437 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Prepair 1000+ v1.1413 SC5D Zornitza Stark Marked gene: SC5D as ready
Prepair 1000+ v1.1413 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1413 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 1000+ v1.1412 SC5D Zornitza Stark Publications for gene: SC5D were set to
Prepair 1000+ v1.1397 SC5D Lauren Rogers reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC5A7 Clare Hunt reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Prepair 1000+ v1.870 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, 614615 (3) to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170
Prepair 1000+ v1.869 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Prepair 1000+ v1.868 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Prepair 1000+ v1.868 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.387 C5 Lilian Downie Marked gene: C5 as ready
Prepair 1000+ v1.387 C5 Lilian Downie Gene: c5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.387 C5 Lilian Downie Publications for gene: C5 were set to
Prepair 1000+ v1.355 C5 Crystle Lee reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SLC52A3 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3) for gene: SLC52A3
Prepair 1000+ v1.3 SLC52A2 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 (3) for gene: SLC52A2
Prepair 1000+ v1.3 SC5D Seb Lunke Added phenotypes Lathosterolosis, 607330 (3) for gene: SC5D
Prepair 1000+ v1.3 ERCC5 Seb Lunke Added phenotypes Xeroderma pigmentosum, group G, 278780 (3) for gene: ERCC5
Prepair 1000+ v1.3 C5orf42 Seb Lunke Added phenotypes Joubert syndrome 17, 614615 (3) for gene: C5orf42
Prepair 1000+ v0.85 TECPR2 Crystle Lee gene: TECPR2 was added
gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Review for gene: TECPR2 was set to GREEN
Added comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent
Sources: Literature
Prepair 1000+ v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Prepair 1000+ v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Prepair 1000+ v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Prepair 1000+ v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Prepair 1000+ v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Prepair 1000+ v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)