Autosomal Recessive Spastic Paraplegia Type 63

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

Genes related to Autosomal Recessive Spastic Paraplegia Type 63

AMPD2

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 63

Global developmental delay
Short stature
Spasticity
Hyperreflexia
Skeletal muscle atrophy
Gait disturbance
Hypoplasia of the corpus callosum
Hypertonia
Spastic paraplegia
Decreased body weight

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Spastic Paraplegia Type 63 Is also known as spg63.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autosomal Recessive Spastic Paraplegia Type 63 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN Specificity 6 % Genes 100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN Specificity 6 % Genes 100 %
Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes). By CGC Genetics (Portugal). SPG11, SPG7, TFG, ERLIN2, PNPLA6, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, CYP7B1, C12orf65, DDHD2 , (...) View the complete list with 13 more genes Panel complete gene list SPG11, SPG7, TFG, ERLIN2, PNPLA6, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, CYP7B1, C12orf65, DDHD2, ENTPD1, B4GALNT1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, L1CAM, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1 Specificity 4 % Genes 100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes). By CGC Genetics (Portugal). STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...) View the complete list with 32 more genes Panel complete gene list STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5, RARS2, MED17, KNL1, WDR62, VPS53, NHEJ1, CEP63, TSEN54, TSEN2, CEP135, CEP152, DYNC1H1, DNM1L, SEPSECS, TUBB2B, EFTUD2, DYRK1A, AMPD2, AP4M1, KIF2A, KIF5C, KIF11, LIG4, MCPH1, OPHN1, PAFAH1B1, CHMP1A, ATR, PNKP, POMT1, PQBP1, RBBP8 Specificity 2 % Genes 100 %
Hereditary spastic paraplegia (NGS panel for 43 genes). By CGC Genetics (Portugal). RTN2, SPG11, ATL1, SPAST, SPG7, TFG, ERLIN2, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1 , (...) View the complete list with 23 more genes Panel complete gene list RTN2, SPG11, ATL1, SPAST, SPG7, TFG, ERLIN2, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, FA2H, AP5Z1, VPS37A, C19orf12, REEP1, CYP7B1, ZFYVE27, C12orf65, WASHC5, DDHD2, ENTPD1, B4GALNT1, AMPD2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, KIF5A, L1CAM, ARL6IP1, NT5C2, KIF1A, PLP1, SLC33A1 Specificity 3 % Genes 100 %
Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene). By CGC Genetics (Portugal). AMPD2 Specificity 100 % Genes 100 %
Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene). By CGC Genetics (Portugal). AMPD2 Specificity 100 % Genes 100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...) View the complete list with 50 more genes Panel complete gene list SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, SPART, GBA2, LYST, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, TUBB4A, HACE1, FA2H, AP5Z1, VPS37A, C19orf12, PGAP1, REEP1, CYP7B1, UNC80, DARS, C12orf65, IBA57, WASHC5, DSTYK, DDHD2, KIDINS220, ATP13A2, WDR48, ARSI, ENTPD1, GAD1, B4GALNT1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, ARL6IP1, NT5C2, ATRX, KIF1A, PLP1, ALDH18A1 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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