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  3. TMEM98
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Structural eye disease

Gene: TMEM98

Green List (high evidence)
TMEM98 (transmembrane protein 98)
EnsemblGeneIds (GRCh38): ENSG00000006042
EnsemblGeneIds (GRCh37): ENSG00000006042
OMIM: 615949, Gene2Phenotype
TMEM98 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Awadalla et al. 2014 one family, Khorram et al. 2015 two familes. 2/3 variants are missense
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 missense
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nanophthalmos 4, OMIM:615972
  • Nanophthalmos 4, MONDO:0014426
OMIM
615949
Clinvar variants
Variants in TMEM98
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426

17 Apr 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972; NNO4; Nanophthalmos 4, 615972 to NNO4 Nanophthalmos 4, 615972

17 Apr 2019, Gel status: 4

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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