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| Monogenic hearing loss v2.104 | ROR1 | Eleanor Williams Phenotypes for gene: ROR1 were changed from Deafness, autosomal recessive 108, MIM#617654 to Deafness, autosomal recessive 108, MIM#617654; deafness, autosomal recessive 108 MONDO:0033200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.103 | ROR1 | Eleanor Williams Classified gene: ROR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.103 | ROR1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber as there is 1 familial case plus a mouse model that replicates the disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.103 | ROR1 | Eleanor Williams Gene: ror1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.102 | ROR1 | Eleanor Williams reviewed gene: ROR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27162350; Phenotypes: ?Deafness, autosomal recessive 108, 617654, deafness, autosomal recessive 108 MONDO:0033200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | ROR1 |
Zornitza Stark gene: ROR1 was added gene: ROR1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROR1 were set to 27162350 Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#617654 Review for gene: ROR1 was set to AMBER Added comment: Single family, homozygous missense variant in sibs; mouse model. Sources: Expert list |
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