Structural eye disease
Gene: TMEM98
Awadalla et al. 2014 one family, Khorram et al. 2015 two familes. 2/3 variants are missenseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NNO4; Nanophthalmos 4, 615972
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Awadalla et al. 2014 one family, Khorram et al. 2015 two familes. 2/3 variants are missenseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NNO4 Nanophthalmos 4, 615972
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426
Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972; NNO4; Nanophthalmos 4, 615972 to NNO4 Nanophthalmos 4, 615972
Source NHS GMS was added to TMEM98. Mode of pathogenicity for gene TMEM98 was changed from to Other - please provide details in the comments Added phenotypes NNO4 Nanophthalmos 4, 615972 for gene: TMEM98 Publications for gene TMEM98 were changed from 26392740; 24852644 to 24852644; 26392740
gene: TMEM98 was added gene: TMEM98 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM98 were set to 26392740; 24852644 Phenotypes for gene: TMEM98 were set to NNO4; Nanophthalmos 4, 615972