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Skeletal dysplasia

Gene: FAM111A

Green List (high evidence)

FAM111A (family with sequence similarity 111 member A)
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 7 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Slender bone dysplasia gp of SD. Specific recurrent de novo variants - missense and in-frame del. Not truncating variants?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Mode of pathogenicity
Other - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FAM111A; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Louise Daugherty (Genomics England Curator)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and with Kenny-Caffey syndrome, type 2 127000 in G2P. Four variants reported in Gracile bone dysplasia 602361 and two in Kenny-Caffey syndrome, type 2 127000
Created: 28 Jul 2016, 11:26 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gracile bone dysplasia 602361
  • Kenny-Caffey syndrome, type 2 127000
OMIM
615292
Clinvar variants
Variants in FAM111A
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000 for gene: FAM111A

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FAM111A. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FAM111A were set to

29 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FAM111A were set to 16086393

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000

28 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FAM111A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

FAM111A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FAM111A was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAM111A was created by sleigh