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  3. LZTR1
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Growth failure

Gene: LZTR1

Green List (high evidence)
LZTR1 (leucine zipper like transcription regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal dominant Noonan syndrome - GOF missense.
Autosomal recessive Noonan syndrome - LOF missense & PTCs.
Also note gene associated with Schwannomatosis - somatic 2nd hit, LOF.

No pattern for GOF, LOF missense (ie. GOF dont cluster to a particular domain).
Created: 30 Jan 2020, 11:49 p.m. | Last Modified: 30 Jan 2020, 11:49 p.m.
Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 10; Noonan syndrome 2

Publications

Created: 30 Jan 2020, 11:49 p.m.
Last Modified: 30 Jan 2020, 11:49 p.m.
Panel version: Imported from Rasopathy panel version 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 10
  • Noonan syndrome 2
OMIM
600574
Clinvar variants
Variants in LZTR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lztr1 has been classified as Green List (High Evidence).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LZTR1 were changed from increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10 to Noonan syndrome 10; Noonan syndrome 2

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LZTR1 were set to 29469822; 25795793

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LZTR1 was added gene: LZTR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 29469822; 25795793 Phenotypes for gene: LZTR1 were set to increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10