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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TMEM94

Amber List (moderate evidence)

TMEM94 (transmembrane protein 94)
EnsemblGeneIds (GRCh38): ENSG00000177728
EnsemblGeneIds (GRCh37): ENSG00000177728
TMEM94 is in 7 panels

2 reviews

Edwin Kirk (New South Wales Health Pathology Randwick)

I don't know

Borderline; most evidence seems to come from a single publication, other reports in HGMD are large series with limited clinical information. I think we should leave off MM list for now, pending more evidence.
Created: 6 Dec 2020, 5:46 a.m. | Last Modified: 6 Dec 2020, 5:46 a.m.
Panel Version: 0.49

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

10 individuals from 6 unrelated families reported.
Sources: Expert list
Created: 4 Sep 2020, 1:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Clinvar variants
Variants in TMEM94
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tmem94 has been classified as Amber List (Moderate Evidence).

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tmem94 has been classified as Amber List (Moderate Evidence).

4 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM94 was added gene: TMEM94 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to 30526868 Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Review for gene: TMEM94 was set to GREEN