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  3. FAM111A
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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 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition.
Created: 20 Apr 2022, 1:15 a.m. | Last Modified: 20 Apr 2022, 1:15 a.m.
Panel Version: 0.13086

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant Kenny-Caffey syndrome MONDO:0007478

Publications

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

Created: 20 Apr 2022, 1:15 a.m.
Last Modified: 20 Apr 2022, 1:15 a.m.
Panel version: Imported from Mendeliome panel version 0.13086

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Gracile bone dysplasia 602361
  • Kenny-Caffey syndrome, type 2 127000
OMIM
615292
Clinvar variants
Variants in FAM111A
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM111A was added gene: FAM111A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000