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Newborns main panel

Gene: TMEM38B

Green List (high evidence)
TMEM38B (transmembrane protein 38B)
EnsemblGeneIds (GRCh38): ENSG00000095209
EnsemblGeneIds (GRCh37): ENSG00000095209
OMIM: 611236, Gene2Phenotype
TMEM38B is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Sheffield Diagnostic Genetics Service ([email protected]) have requested to be involved at the variant review stage. They will be able to assist with variant interpretation prior to reporting.
Created: 11 Feb 2026, 6:26 p.m. | Last Modified: 11 Feb 2026, 6:26 p.m.
Panel Version: 0.503
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
https://search.thegencc.org/submissions/GENCC_000106-HGNC_25535-OMIM_615066-HP_0000007-GENCC_100002 ; PMID: 26911354 (2 cases), PMID: 24835313 (1 case), PMID: 23054245 (1 case), PMID: 23316006 ( 1 case), PMID: 34036147 (1 case), PMID: 37696855 (1 case), PMID: 28323974 (4 unrelated cases)
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.503

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XIV
Tags
special_consideration
OMIM
611236
Clinvar variants
Variants in TMEM38B
Penetrance
None
Panels with this gene

History Filter Activity

11 Feb 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: TMEM38B.

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TMEM38B was added gene: TMEM38B was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV