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Corneal abnormalities

Gene: MIR184

Green List (high evidence)
MIR184 (microRNA 184)
EnsemblGeneIds (GRCh38): ENSG00000207695
EnsemblGeneIds (GRCh37): ENSG00000207695
OMIM: 613146, Gene2Phenotype
MIR184 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group - should be green.
Created: 22 Feb 2017, 11:02 a.m.
Comment on list classification: The MIR184, 57C-T variant has been reported in the majority of cases. PMID: 23833072 does report a further 2 variants.
Created: 21 Feb 2017, 11:58 a.m.
Added tag to explain why this entity does not have an Ensembl ID.
Created: 21 Feb 2017, 11:27 a.m.
Created: 21 Feb 2017, 11:27 a.m.

Panel version: 0.111

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EDICT syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME
  • EDICT syndrome 614303
  • Keratoconus
Tags
locus-type-rna-micro
OMIM
613146
Clinvar variants
Variants in MIR184
Penetrance
Complete
Publications
  • 21996275
  • 22131394
  • 25373792
  • 24138095
  • 23833072
  • 21996275
  • Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372
  • Hughes et al (2013) IOVS 54:5266
  • 27195078 - +39G >T identified in two Iranian sisters with keratoconus was also found at a similar frequency in patients vs controls (PMID: 23833072). The parents were not screened genetically. This publication concluded "Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."
  • 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases were detected.
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

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

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394; 25373792; 24138095; 23833072; 21996275; Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372; Hughes et al (2013) IOVS 54:5266; 27195078 - +39G >T identified in two Iranian sisters with keratoconus was also found at a similar frequency in patients vs controls (PMID: 23833072). The parents were not screened genetically. This publication concluded "Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."; 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases were detected.

21 Feb 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MIR184 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394; 25373792; 24138095; 23833072; 21996275; Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372; Hughes et al (2013) IOVS 54:5266; 27195078 - a variant identified in two Iranian sisters with keratoconus is also found in a cohort of controls, therefore this publication concluded "Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."; 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases was detected

21 Feb 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MIR184 were set to ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;EDICT syndrome 614303;Keratoconus

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394; 25373792; 24138095; 23833072;21996275; Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372; Hughes et al (2013) IOVS 54:5266; iliff et al (2012) IOVS 53:348-353; 27195078 - a variant identified in two Iranian sisters with keratoconus is also found in a cohort of controls, therefore this publication concluded "Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."; 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases was detected

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394; Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372; Hughes et al (2013) IOVS 54:5266; iliff et al (2012) IOVS 53:348-353; 27195078 - a variant identified in two Iranian sisters with keratoconus is also found in a cohort of controls, therefore this publication concluded " Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."; 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases was detected; 25373792; 24138095; 23833072

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394; Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372; Hughes et al (2013) IOVS 54:5266; iliff et al (2012) IOVS 53:348-353; 27195078 - a variant identified in two Iranian sisters with keratoconus is also found in a cohort of controls, therefore this publication concluded " Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."; 26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases was detected; 25373792;24138095

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275; 22131394;Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372;Hughes et al (2013) IOVS 54:5266;iliff et al (2012) IOVS 53:348-353

21 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MIR184 were set to 21996275;22131394

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MIR184 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MIR184 was created by ellenmcdonagh