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  3. MLPH
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Vici Syndrome and other autophagy disorders

Gene: MLPH

Green List (high evidence)
MLPH (melanophilin)
EnsemblGeneIds (GRCh38): ENSG00000115648
EnsemblGeneIds (GRCh37): ENSG00000115648
OMIM: 606526, Gene2Phenotype
MLPH is in 3 panels

1 review

Olivia Niblock (Genomics England Curator)

Comment on list classification: Radboud notes that mutations in this gene are linked with Griscelli syndrome type 3. This is further supported by evidence from a literature paper, which cites 4 unrelated cases of Griscelli syndrome type 3, although some patients has parental consanguinity.
Created: 19 Jun 2017, 2:37 p.m.
Created: 19 Jun 2017, 2:37 p.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 3
OMIM
606526
Clinvar variants
Variants in MLPH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.

19 Jun 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for MLPH were set to 26927810; 22711375

19 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MLPH was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MLPH was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature