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  2. Anophthalmia_Microphthalmia_Coloboma
  3. TMEM98
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Anophthalmia_Microphthalmia_Coloboma

Gene: TMEM98

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least three large multi-generational unrelated families reported to segregate heterozygous variants. Nanophthalmos is a rare form of microphthalmia.
Sources: Expert list
Created: 22 May 2020, 6:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nanophthalmos 4 MIM#615972

Publications

Created: 22 May 2020, 6:26 a.m.

Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nanophthalmos 4 MIM#615972
OMIM
615949
Clinvar variants
Variants in TMEM98
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem98 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem98 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM98 was added gene: TMEM98 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM98 were set to 24852644; 26392740 Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 MIM#615972 Review for gene: TMEM98 was set to GREEN