Intracerebral calcification disorders

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Yanick Crow (University of Manchester)

Green List (high evidence)

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

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Nov 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL4A1 were set to Porencephaly 1;Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification

29 Nov 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 22134833

29 Nov 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Intracerebral calcification disorderspanel. Sources: Expert list

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A1 was created by ellenmcdonagh