Amish, Mennonite, and Hutterite
Genetic Disorder Database

Telomere-related pulmonary fibrosis and/or bone marrow failure-1

Disorder
OMIM #: #614742  (Click to access OMIM database)
Disorder: Telomere-related pulmonary fibrosis and/or bone marrow failure-1 
Also known as:  
Clinical
Phenotype: early childhood onset of skin abnormalities, pulmonary fibrosis, aplastic anemia due to bone marrow failure, hepatic fibrosis, increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: TERT
Base Change: G>C, at nucleotide 1710
Amino Acid Change:
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  

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