| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital nystagmus v0.121 | LRMDA | Zornitza Stark Marked gene: LRMDA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.121 | LRMDA | Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.121 | LRMDA | Zornitza Stark Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.120 | LRMDA | Zornitza Stark Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | LRMDA | Zornitza Stark Added phenotypes Albinism, oculocutaneous, type VII for gene: LRMDA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.0 | LRMDA |
Zornitza Stark gene: LRMDA was added gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477 Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII |
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