Research panel - Severe Paediatric Disorders
Gene: FAM111A

FAM111A (family with sequence similarity 111 member A)
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Created: 2 Nov 2023, 12:22 p.m. | Last Modified: 2 Nov 2023, 12:22 p.m.

Panel Version: 1.176

Created: 2 Nov 2023, 12:22 p.m.
Last Modified: 2 Nov 2023, 12:22 p.m.
Panel version: 1.176

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FAM111A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Gracile bone dysplasia, 602361 (3) | Kenny-Caffey syndrome, type 2, 127000 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Gracile bone dysplasia, 602361
Kenny-Caffey syndrome, type 2, 127000

OMIM

615292

Clinvar variants

Variants in FAM111A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Nov 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FAM111A were set to 30847515

21 Feb 2020, Gel status: 3