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  2. Intracerebral calcification disorders
  3. JAM3
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Intracerebral calcification disorders

Gene: JAM3

Green List (high evidence)
JAM3 (junctional adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000166086
EnsemblGeneIds (GRCh37): ENSG00000166086
OMIM: 606871, Gene2Phenotype
JAM3 is in 8 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Enough evidence for this gene to be green (more than 3 cases/family reports), however I am unsure whether Hemorrhagic destruction of the brain, subependymal calcification, and cataracts should included on the panel.
Created: 7 Dec 2016, 9:57 a.m.
Created: 7 Dec 2016, 9:57 a.m.

Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
OMIM
606871
Clinvar variants
Variants in JAM3
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Dec 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for JAM3 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

JAM3 was created by oniblock

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

JAM3 was added to Intracerebral calcification disorderspanel. Sources: Radboud University Medical Center, Nijmegen