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Fetal anomalies

Gene: EXOC6B

Green List (high evidence)
EXOC6B (exocyst complex component 6B)
EnsemblGeneIds (GRCh38): ENSG00000144036
EnsemblGeneIds (GRCh37): ENSG00000144036
OMIM: 607880, Gene2Phenotype
EXOC6B is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Bibb (C&S GLH)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Not G2P or ClinGen curated. Green on skeletal dysplasia panel (R104) Feb 25. PMID: 26669664 2 brothers, consanguineous parents, homozygous nonsense variant. Dislocations of hip and knee joints at birth, joint laxity.Also noted platyspondyly, scoliosis, slender ribs, severe dysplasia in long tubular bones, absent/delayed ossification of carpal bones and other skeletal fetaures. PMID:30284759 reported two sisters with dislocations of the hips and knees, long slender fingers with distal tapering and significant motor disability but normal (older sister) or low-normal intelligence (younger sister). They were identified with a homozygous in-frame deletion of exons 9-20 in EXOC6B gene. PMID:36150098 reported two unrelated individuals with the same condition, Spondyloepimetaphyseal dysplasia with joint laxity, type 3. One of them was identified with a homozygous frameshift exon 20 deletion and the other with a homozygous nonsense variant (p.Leu134Ter). Functional studies on patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 3

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
OMIM
607880
Clinvar variants
Variants in EXOC6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: EXOC6B. Tag Q3_25_NHS_review was removed from gene: EXOC6B.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to EXOC6B. Source NHS GMS was added to EXOC6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EXOC6B were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 3 to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: EXOC6B. Tag Q3_25_NHS_review tag was added to gene: EXOC6B.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: EXOC6B was added gene: EXOC6B was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC6B were set to 30284759; 36150098; 26669664 Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3