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DDG2P

Gene: HSPD1

Green List (high evidence)
HSPD1 (heat shock protein family D (Hsp60) member 1)
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 4:58 p.m.
Panel Version: 3.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 4:58 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to HSPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to HSPD1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HSPD1 was added gene: HSPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233