Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: SLC30A2

I don't know

Comment on list classification: Clinical features of transient neonatal zinc deficiency, particularly more severe cases associated with biallelic variants in this gene, overlap with acrodermatitis enteropathica which would prompt genetic testing. This will be flagged for GMS expert review to determine whether this condition should be included on the panel to allow differential diagnosis.

The MOI should also be reviewed to determine whether monoallelic, as well as biallelic, variants should be included or if only more severe recessive cases are likely to be relevant.

Created: 29 Oct 2025, 12:10 p.m. | Last Modified: 29 Oct 2025, 12:10 p.m.

Panel Version: 8.61

SLC30A2 is associated with Zinc deficiency, transient neonatal, OMIM:608118 in OMIM (accessed 29-10-2025), and has a DEFINITIVE gene disease association with zinc deficiency, transient neonatal, MONDO:0011973 in ClinGen (curation entry from 24-01-2025).

This condition occurs in breast-fed infants as a consequence of low milk zinc concentration in maternal breast milk, caused by maternal heterozygous variants in the SLC30A2 gene. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. More severe forms of SLC30A2-related zinc deficiency may resemble the more severe disorder acrodermatitis enteropathica which would lead to consideration of genetic investigations.

The ClinGen summary states that eleven unique variants, including missense, nonsense, and frameshift mutations, documented in 13 unrelated mothers whose infants affected with TNZD across 10 publications (PMIDs: 17065149, 36967740, 22733820, 24194756, 24456035, 27304099, 28111782, 37082517, 23741301, 32278324).

Though most cases follow a dominant pattern of inheritance, distinct biallelic variants have been reported in two unrelated families with severe zinc deficiency (PMID: 23741301; 32278324), which is more likely to resemble acrodermatitis enteropathica in a clinical setting.
Sources: ClinGen, Literature

Created: 29 Oct 2025, noon

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Zinc deficiency, transient neonatal, OMIM:608118; zinc deficiency, transient neonatal, MONDO:0011973

Publications

• 17065149
• 36967740
• 22733820
• 24194756
• 24456035
• 27304099
• 28111782
• 37082517
• 23741301
• 32278324