Skeletal dysplasia

Gene: GNPTAB

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931

Publications

• 16465621

Green List (high evidence)

from Genereviews:
ML II is evident at birth. Orthopaedic abnormalities may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s).
All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve.

ML IIIα/β becomes evident at about age three years.

Phenotypes intermediate between ML II and ML IIIα/β are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIα/β

Created: 30 Nov 2021, 1:38 a.m. | Last Modified: 30 Nov 2021, 1:38 a.m.

Panel Version: 0.9952

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600

Publications

• 20301728

Variants in this GENE are reported as part of current diagnostic practice