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  2. Anophthalmia or microphthalmia
  3. TMEM98
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Anophthalmia or microphthalmia

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

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Grey to Green due to expert review and evidence in the literature supporting phenotype
Created: 15 Aug 2017, 1:20 p.m.
Comment on phenotypes: reformatted
Created: 15 Aug 2017, 1:14 p.m.
Created: 15 Aug 2017, 1:14 p.m.

Panel version: 1.6

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nanophthalmos 4 (NNO4) (615972)

Publications

Created: 16 May 2017, 9:21 a.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Nanophthalmos 4, OMIM:615972
  • Nanophthalmos 4, MONDO:0014426
OMIM
615949
Clinvar variants
Variants in TMEM98
Penetrance
Complete
Publications
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 Nanophthalmos 4, 615972; NNO4 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426

15 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TMEM98 were set to Nanophthalmos 4, 615972; NNO4

16 May 2017, Gel status: 0

Added New Source

Owen Siggs (Flinders University)

TMEM98 was added to Anophthalmia/microphthamiapanel. Sources: Literature

16 May 2017, Gel status: 0

Created

Owen Siggs (Flinders University)

TMEM98 was created by osiggs