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  3. MIR140
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Skeletal dysplasia

Gene: MIR140

Green List (high evidence)
MIR140 (microRNA 140)
EnsemblGeneIds (GRCh38): ENSG00000208017
EnsemblGeneIds (GRCh37): ENSG00000208017
OMIM: 611894, Gene2Phenotype
MIR140 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Created: 9 Apr 2020, 3:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618

Publications

Created: 9 Apr 2020, 3:52 a.m.

Panel version: Imported from Mendeliome panel version 0.2044

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Created: 9 Apr 2020, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
618618

Publications

Mode of pathogenicity
Other

Created: 9 Apr 2020, 2:46 a.m.

Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
OMIM
611894
Clinvar variants
Variants in MIR140
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mir140 has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MIR140 were changed from 618618 to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mir140 has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 0

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

Chris Richmond (Genetic Health Queensland)

gene: MIR140 was added gene: MIR140 was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR140 were set to 30804514; 31633310 Phenotypes for gene: MIR140 were set to 618618 Penetrance for gene: MIR140 were set to unknown Mode of pathogenicity for gene: MIR140 was set to Other Review for gene: MIR140 was set to GREEN