1. Panels
  2. Osteopetrosis
  3. TYROBP
STRs in panel
Prev Next
Regions in panel
Prev Next

Osteopetrosis

Gene: TYROBP

Red List (low evidence)
TYROBP (TYRO protein tyrosine kinase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000011600
EnsemblGeneIds (GRCh37): ENSG00000011600
OMIM: 604142, Gene2Phenotype
TYROBP is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

It is not appropriate for TYROBP to be green on this panel - Osteopetrosis (R104.4), which according to the National genomic test directory, is designed for Osteopetrosis WES or large panel (urgent testing only) (https://www.england.nhs.uk/wp-content/uploads/2024/07/national-genomic-test-directory-rare-and-inherited-disease-eligibility-criteria-v7.pdf)
Created: 8 Aug 2024, 4:05 p.m. | Last Modified: 8 Aug 2024, 4:05 p.m.
Panel Version: 1.34
Created: 8 Aug 2024, 4:05 p.m.
Last Modified: 8 Aug 2024, 4:05 p.m.
Panel version: 1.34

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

This panel (R104.4) is provided for urgent early-onset cases of osteopetrosis. This gene causes a non-osteopetrosis condition (with some limited overlap) which is adult-onset and therefore isn't relevant for this panel. It can be retained on the larger skeletal dysplasia and dementia panels for GMS use.
Created: 8 Jul 2024, 2:20 p.m. | Last Modified: 8 Jul 2024, 2:20 p.m.
Panel Version: 1.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Jul 2024, 2:20 p.m.
Last Modified: 8 Jul 2024, 2:20 p.m.
Panel version: 1.34

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 2:23 p.m. | Last Modified: 10 Dec 2025, 2:23 p.m.
Panel Version: 1.37
This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 1.37

History Filter Activity

10 Dec 2025, Gel status: 1

Removed Tag, Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_24_NHS_review was removed from gene: TYROBP. Tag Q3_24_demote_red was removed from gene: TYROBP. Tag Q3_24_expert_review was removed from gene: TYROBP.

10 Dec 2025, Gel status: 1

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to TYROBP. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Aug 2024, Gel status: 3

Added Tag, Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_NHS_review tag was added to gene: TYROBP. Tag Q3_24_demote_red tag was added to gene: TYROBP. Tag Q3_24_expert_review tag was added to gene: TYROBP.

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TYROBP were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: TYROBP was added gene: TYROBP was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770