Intracerebral calcification disorders
Gene: COL4A1Comment on list classification: Expert review green. It is a green gene on the Familial cerebral small vessel disease gene panel (version 1.0) and Intellectual disability gene panel (version 1.14). It is a both developmental disorder and incidental non-developmental disorder DD gene for Porencephaly 1, which can include calcification. More than 3 family reports for Porencephaly 1.Created: 29 Nov 2016, 12:41 p.m.
Important cause of dominant neurological disease with variable expression sometimes associated with the presence of intracerebral calcification which can serve as an important diagnostic clue.Created: 11 Feb 2016, 7:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Variable - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
Phenotypes for COL4A1 were set to Porencephaly 1;Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Publications for COL4A1 were set to 22134833
Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
COL4A1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
COL4A1 was created by ellenmcdonagh