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Fetal anomalies

Gene: LMX1B

Green List (high evidence)

LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.

Prenatal presentations with abnormal limb movement reported.
Created: 4 Nov 2020, 9:51 p.m. | Last Modified: 25 Jan 2022, 7:03 a.m.
Panel Version: 0.2766

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome, MIM# 161200, MONDO:0008061

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Nail-patella syndrome, MIM# 161200, MONDO:0008061
OMIM
602575
Clinvar variants
Variants in LMX1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2022, 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).

25 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMX1B were changed from NAIL-PATELLA SYNDROME to Nail-patella syndrome, MIM# 161200, MONDO:0008061

25 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LMX1B were set to

25 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMX1B was added gene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME