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Intellectual disability

Gene: FAM120C

Amber List (moderate evidence)

FAM120C (family with sequence similarity 120C)
EnsemblGeneIds (GRCh38): ENSG00000184083
EnsemblGeneIds (GRCh37): ENSG00000184083
OMIM: 300741, Gene2Phenotype
FAM120C is in 1 panel

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was reported in PMID 25258334 as a novel candidate gene for autism spectrum disorder. They present a male patient with Aarskog syndrome, cleft palate, mild intellectual disability, and autism spectrum disorder (ASD) with a deletion on chromosome Xp11.2 encompassing FGD1, FAM120C, and PHF8. Two brothers reported in PMID 18498374 with autistic disorder, intellectual disability (ID) and cleft lip/palate with a microdeletion of Xp11.22. Not found in Gene2Phenotype or OMIM with a disease association. A case with a loss-of-function variant in this gene is reported in PMID 26350204.
Created: 13 Dec 2017, 9:46 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Tags
watchlist
OMIM
300741
Clinvar variants
Variants in FAM120C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FAM120C was set to ['25258334', '18498374']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FAM120C was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FAM120C was added to Intellectual disabilitypanel. Sources: Expert Review Red