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| BabyScreen+ newborn screening v1.114 | COCH |
Tommy Li Added phenotypes Deafness, autosomal recessive 110, MIM# 618094 for gene: COCH Publications for gene COCH were updated from 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 to 32939038; 26256111; 21046548; 22931125; 18697796; 28099493; 17561763; 16151338; 32562050; 9806553; 29449721; 28116169; 18312449; 28733840; 22610276 |
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| BabyScreen+ newborn screening v0.2141 | GREB1L |
Lilian Downie gene: GREB1L was added gene: GREB1L was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to PMID: 29955957, 32585897 Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80 MIM#619274 Review for gene: GREB1L was set to GREEN Added comment: Congenital hearing impairment with cochlear abnormalities This gene also causes Renal hypodysplasia/aplasia 3 MIM#617805 with no clear difference in mutation spectrum Sources: Expert list |
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| BabyScreen+ newborn screening v0.1679 | COCH | Zornitza Stark Tag deafness tag was added to gene: COCH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.869 | DFNB59 |
Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models. New HGNC name is PJVK. Hearing loss is pre-lingual, therefore include. Treatment: hearing aids/cochlear implant. |
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| BabyScreen+ newborn screening v0.660 | COCH | Zornitza Stark Marked gene: COCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.660 | COCH | Zornitza Stark Gene: coch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.660 | COCH | Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal recessive 110, MIM# 618094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.659 | COCH | Zornitza Stark Mode of inheritance for gene: COCH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.658 | COCH | Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | COCH |
Zornitza Stark gene: COCH was added gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 |
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