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Cataract

Gene: LMX1B

Amber List (moderate evidence)

LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Cataract is a reported feature of nail-patella syndrome but the typical finding is that of glaucoma.
Created: 8 Jul 2020, 8:14 a.m. | Last Modified: 8 Jul 2020, 8:18 a.m.
Panel Version: 0.216

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome, MIM# 161200

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nail-patella syndrome, MIM# 161200
OMIM
602575
Clinvar variants
Variants in LMX1B
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmx1b has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lmx1b has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome, MIM# 161200

8 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMX1B was added gene: LMX1B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMX1B was set to Unknown