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  2. Growth failure in early childhood
  3. COL1A1
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Growth failure in early childhood

Gene: COL1A1

Red List (low evidence)
COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: OI.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
OI

Created: 14 May 2019, 1:25 p.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • OI
  • Osteogenesis imperfecta, type II, 166210
  • Osteogenesis imperfecta, type III, 259420
  • Osteogenesis imperfecta, type I, 166200
  • Osteogenesis imperfecta, type IV, 166220
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
None
Panels with this gene

History Filter Activity

14 May 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: COL1A1 was added gene: COL1A1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type IV, 166220