Corneal abnormalities
Gene: MIR184Comment 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.
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
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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.
Mode of inheritance for MIR184 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
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
Phenotypes for MIR184 were set to ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;EDICT syndrome 614303;Keratoconus
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
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
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
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
Publications for MIR184 were set to 21996275;22131394
MIR184 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
MIR184 was created by ellenmcdonagh