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  3. AGRN
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Fetal anomalies

Gene: AGRN

Green List (high evidence)
AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 3 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Known myesthenia gene. Two publications with arthrogryposis. One paper about 3 siblings with arthrogryposis and compound het variants in 2 of the sibs. The other has one prenatal lethal arthrogryposis case. LoF variant in both.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Comment on list classification: Maintaining Red rating and currently only a single case (PMID: 31730230) has been reported with a relevant phenotype to this panel.
Created: 21 Jan 2021, 1:28 p.m. | Last Modified: 21 Jan 2021, 1:28 p.m.
Panel Version: 1.174
Created: 21 Jan 2021, 1:28 p.m.
Last Modified: 21 Jan 2021, 1:28 p.m.
Panel version: 6.29

Rhiannon Mellis (Great Ormond Street Hospital)

Red List (low evidence)

Geremek et al. 2019: First case report associating AGRN with lethal fetal phenotype (FADS) - unlike previous reported postnatal cases, the fetus had null variants on both alleles (a frameshift in trans with a 148kb deletion), which the authors suggest as a possible explanation for the severe phenotype.

Suggest maintain Red or Amber rating pending more cases.
Created: 30 Sep 2020, 11:37 a.m. | Last Modified: 30 Sep 2020, 11:37 a.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence

Publications

Created: 30 Sep 2020, 11:37 a.m.
Last Modified: 30 Sep 2020, 11:37 a.m.
Panel version: 1.97

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Unlikely to detect congenital myasthenia prenatally. Action taken: Demoted AGRN gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Fetal akinesia deformation sequence, MONDO:0008824
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
OMIM
103320
Clinvar variants
Variants in AGRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: AGRN. Tag Q3_25_NHS_review was removed from gene: AGRN.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

5 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: AGRN. Tag Q3_25_NHS_review tag was added to gene: AGRN.

5 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects to Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120

5 Sep 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to AGRN. Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN Publications for gene: AGRN were updated from 31730230; 39807604 to 31730230; 39807604 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Aug 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AGRN were set to 31730230

29 Aug 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence, MONDO:0008824

21 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: agrn has been classified as Red List (Low Evidence).

21 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial 615120 to Fetal akinesia deformation sequence (FADS)

21 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AGRN were set to

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to AGRN. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: AGRN was added gene: AGRN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial 615120