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Prepair 1000+ v1.1257 TMEM138 Kate Scarff changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Prepair 1000+ v1.1184 RAX Zornitza Stark Marked gene: RAX as ready
Prepair 1000+ v1.1184 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Prepair 1000+ v1.1184 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 1000+ v1.1183 RAX Zornitza Stark Publications for gene: RAX were set to
Prepair 1000+ v1.978 RAX Kate Scarff reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14662654, 18783408, 30811539, 24033328, 22736936, 28831107; Phenotypes: Microphthalmia, syndromic 16, MIM #611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.565 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Prepair 1000+ v1.563 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.371 PNKP Lilian Downie Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Charcot-Marie-Tooth disease, type 2B2 MIM#605589; Ataxia-oculomotor apraxia 4 MIM#616267; Microcephaly, seizures, and developmental delay MIM#613402
Prepair 1000+ v1.322 PNKP Shakira Heerah reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899, 20118933, 23224214, 29243230, 2578773, 27066567; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay, Charcot-Marie-Tooth disease, type 2B2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.232 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type, #309548 to Intellectual disability, X-linked, FRAXE type 309548
Prepair 1000+ v1.229 AFF2 Zornitza Stark reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.100 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from Ehlers-Danlos syndrome, type VIIC, 225410 (3) to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Prepair 1000+ v1.98 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ADAMTS2 Ee Ming Wong reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.7 AFF2 Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.3 RAX Seb Lunke Added phenotypes Microphthalmia, isolated 3, 611038 (3) for gene: RAX
Prepair 1000+ v0.0 AFF2 Zornitza Stark gene: AFF2 was added
gene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548
Prepair 1000+ v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Prepair 1000+ v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)