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  3. LRRC7
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Intellectual disability

Gene: LRRC7

Green List (high evidence)
LRRC7 (leucine rich repeat containing 7)
EnsemblGeneIds (GRCh38): ENSG00000033122
EnsemblGeneIds (GRCh37): ENSG00000033122
OMIM: 614453, Gene2Phenotype
LRRC7 is in 1 panel

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Andrew Mumford, there is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Created: 3 Oct 2024, 11:49 a.m. | Last Modified: 3 Oct 2024, 11:49 a.m.
Panel Version: 7.53
PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense and truncating variants that support LoF mechanism of disease.
Created: 3 Oct 2024, 11:46 a.m. | Last Modified: 3 Oct 2024, 11:53 a.m.
Panel Version: 7.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 3 Oct 2024, 11:46 a.m.
Last Modified: 3 Oct 2024, 11:53 a.m.
Panel version: 7.51

Andrew Mumford (University of Bristol)

Green List (high evidence)

The association between monoallelic rare LoF variants in LRRC7 and disease class 'intellectual disability' in 100KGP participants was reported first in in 2023 (PMID 36928819).

Detailed phenotype descriptions of the nine pedigrees in the 100KGP discovery collection plus a further sixteen pedigrees in a multicentre european case collection were subsequently published in 2024 (33 affected cases in total; PMID 39256359). This paper confirms functional impact of observed variants on synaptic targeting of the encoded protein Densin-180 in a manner consistent with human phenotype.
Sources: Expert Review, Literature
Created: 22 Sep 2024, 5:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours

Publications

Created: 22 Sep 2024, 5:46 p.m.

Panel version: 7.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
614453
Clinvar variants
Variants in LRRC7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: LRRC7.

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: LRRC7. Tag Q3_24_NHS_review was removed from gene: LRRC7.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to LRRC7. Source Expert Review Green was added to LRRC7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: lrrc7 has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LRRC7 were changed from neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

3 Oct 2024, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359)

3 Oct 2024, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: LRRC7. Tag Q3_24_NHS_review tag was added to gene: LRRC7.

22 Sep 2024, Gel status: 0

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

Andrew Mumford (University of Bristol)

gene: LRRC7 was added gene: LRRC7 was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359) Phenotypes for gene: LRRC7 were set to neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours Penetrance for gene: LRRC7 were set to Complete Review for gene: LRRC7 was set to GREEN