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Intellectual disability syndromic and non-syndromic

Gene: LAS1L

Green List (high evidence)

LAS1L (LAS1 like, ribosome biogenesis factor)
EnsemblGeneIds (GRCh38): ENSG00000001497
EnsemblGeneIds (GRCh37): ENSG00000001497
OMIM: 300964, Gene2Phenotype
LAS1L is in 4 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: Additional patient reported in literature
Created: 24 Mar 2022, 1:16 a.m. | Last Modified: 24 Mar 2022, 1:16 a.m.
Panel Version: 0.4596

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families, however note the pathogenicity of the variant reported in PMID 26358559 is questionable.
Created: 8 Feb 2020, 10:20 a.m. | Last Modified: 25 Jan 2021, 5:36 a.m.
Panel Version: 0.3403

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Wilson-Turner syndrome, MIM# 309585

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Wilson-Turner syndrome, MIM# 309585
OMIM
300964
Clinvar variants
Variants in LAS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: las1l has been classified as Green List (High Evidence).

24 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LAS1L were set to 25644381; 26358559

24 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: las1l has been classified as Green List (High Evidence).

25 Jan 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAS1L were set to 25644381; 25644381

25 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: las1l has been classified as Amber List (Moderate Evidence).

28 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: las1l has been classified as Green List (High Evidence).

8 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585

8 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAS1L were set to

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAS1L was added gene: LAS1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAS1L was set to Unknown