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| BabyScreen+ newborn screening v1.114 | BICD2 |
Tommy Li Added phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related for gene: BICD2 Publications for gene BICD2 were updated from 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393; 35896821 to 23664120; 30054298; 28635954; 29528393; 35896821; 27751653; 23664116; 23664119 |
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| BabyScreen+ newborn screening v0.195 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.195 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.195 | BICD2 | Zornitza Stark Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.194 | BICD2 | Zornitza Stark Publications for gene: BICD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.193 | BICD2 | Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.192 | BICD2 | Zornitza Stark Classified gene: BICD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.192 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.191 | BICD2 | Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291, Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | BICD2 |
Zornitza Stark gene: BICD2 was added gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy |
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